ClinVar Miner

Variants with conflicting interpretations studied for Alstrom syndrome

Coded as:
Minimum review status of the submission for Alstrom syndrome: Collection method of the submission for Alstrom syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
4823 1177 5 157 154 0 12 322

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Alstrom syndrome pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 129 1 0 0
likely pathogenic 129 0 9 1 2
uncertain significance 1 9 5 143 15
likely benign 0 1 143 0 28
benign 0 2 15 28 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Alstrom syndrome 4823 1177 5 157 154 0 12 322

All variants with conflicting interpretations #

Total variants: 322
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn) rs28730853 0.02251
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01643
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn) rs78039319 0.00994
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00668
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_001378454.1(ALMS1):c.12362+18A>T rs535484933 0.00488
NM_001378454.1(ALMS1):c.11872+18G>A rs139647347 0.00482
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=) rs143885319 0.00467
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=) rs142611294 0.00466
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00401
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00401
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=) rs144720929 0.00391
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00273
NM_001378454.1(ALMS1):c.4988C>T (p.Thr1663Ile) rs188807564 0.00267
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=) rs201446579 0.00245
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00218
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00201
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp) rs201074268 0.00199
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_001378454.1(ALMS1):c.10079-11C>T rs368250605 0.00151
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00149
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773 0.00119
NM_001378454.1(ALMS1):c.11641C>T (p.His3881Tyr) rs142278066 0.00102
NM_001378454.1(ALMS1):c.11407C>T (p.Pro3803Ser) rs189032342 0.00086
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928 0.00073
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val) rs78102263 0.00071
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=) rs200491758 0.00066
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00061
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser) rs200390821 0.00057
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys) rs201252375 0.00053
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041 0.00051
NM_001378454.1(ALMS1):c.12363-18A>C rs199968770 0.00050
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala) rs200054604 0.00048
NM_001378454.1(ALMS1):c.11117C>G (p.Ser3706Cys) rs533965968 0.00046
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773 0.00040
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe) rs192499639 0.00036
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_001378454.1(ALMS1):c.1338+19A>G rs145633676 0.00031
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=) rs371329585 0.00023
NM_001378454.1(ALMS1):c.57_58del (p.Glu20fs) rs767882166 0.00022
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877 0.00020
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg) rs373366352 0.00019
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=) rs201478438 0.00019
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850 0.00015
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His) rs200441305 0.00013
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr) rs368957150 0.00012
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala) rs199649563 0.00012
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=) rs367862140 0.00010
NM_001378454.1(ALMS1):c.9600A>C (p.Ala3200=) rs113808259 0.00010
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=) rs1052804740 0.00009
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly) rs563393715 0.00009
NM_001378454.1(ALMS1):c.9908-13C>T rs373325114 0.00009
NM_001378454.1(ALMS1):c.451-5T>G rs774098604 0.00008
NM_001378454.1(ALMS1):c.3266C>G (p.Thr1089Arg) rs556855697 0.00007
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly) rs868269804 0.00007
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr) rs757364858 0.00006
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=) rs199603690 0.00006
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=) rs370228166 0.00005
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704 0.00005
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter) rs751804613 0.00004
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=) rs759983484 0.00004
NM_001378454.1(ALMS1):c.10461C>T (p.Pro3487=) rs202036843 0.00003
NM_001378454.1(ALMS1):c.11669-2A>G rs952110960 0.00003
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=) rs750362630 0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter) rs758195453 0.00003
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala) rs761428155 0.00003
NM_001378454.1(ALMS1):c.7541-6C>T rs1408073039 0.00003
NM_001378454.1(ALMS1):c.9386dup (p.Pro3130fs) rs1361923069 0.00003
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=) rs1464934308 0.00002
NM_001378454.1(ALMS1):c.10385-9C>T rs568809052 0.00002
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr) rs45630562 0.00002
NM_001378454.1(ALMS1):c.12363-12G>A rs749504196 0.00002
NM_001378454.1(ALMS1):c.1238-20A>G rs771811655 0.00002
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter) rs192496253 0.00002
NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=) rs745503022 0.00002
NM_001378454.1(ALMS1):c.427C>T (p.Gln143Ter) rs150825781 0.00002
NM_001378454.1(ALMS1):c.5532C>T (p.Asn1844=) rs369656698 0.00002
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=) rs373972884 0.00002
NM_001378454.1(ALMS1):c.765-12A>G rs200209691 0.00002
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=) rs775482774 0.00002
NM_001378454.1(ALMS1):c.10079-10G>A rs778996015 0.00001
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=) rs756623131 0.00001
NM_001378454.1(ALMS1):c.10214-5C>T rs751591632 0.00001
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722 0.00001
NM_001378454.1(ALMS1):c.10467C>T (p.His3489=) rs371631738 0.00001
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter) rs1275113273 0.00001
NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp) rs1250097723 0.00001
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter) rs1192396248 0.00001
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414 0.00001
NM_001378454.1(ALMS1):c.10947T>C (p.Ser3649=) rs373024720 0.00001
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=) rs747747269 0.00001
NM_001378454.1(ALMS1):c.11643C>T (p.His3881=) rs1296746698 0.00001
NM_001378454.1(ALMS1):c.11667del (p.Gly3890fs) rs1553421496 0.00001
NM_001378454.1(ALMS1):c.11668+17A>G rs201109126 0.00001
NM_001378454.1(ALMS1):c.11669-12C>T rs774970704 0.00001
NM_001378454.1(ALMS1):c.11669-1G>A rs750737346 0.00001
NM_001378454.1(ALMS1):c.11873-10T>A rs1022167078 0.00001
NM_001378454.1(ALMS1):c.11873-11G>A rs571456553 0.00001
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln) rs752714698 0.00001
NM_001378454.1(ALMS1):c.12299-6G>A rs771317399 0.00001
NM_001378454.1(ALMS1):c.12463-14C>G rs766656843 0.00001
NM_001378454.1(ALMS1):c.1339-12G>T rs1260375872 0.00001
NM_001378454.1(ALMS1):c.161T>A (p.Leu54Ter) rs755760721 0.00001
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs) rs777476179 0.00001
NM_001378454.1(ALMS1):c.2041C>T (p.Gln681Ter) rs190439406 0.00001
NM_001378454.1(ALMS1):c.2049G>A (p.Leu683=) rs1572931934 0.00001
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=) rs572605877 0.00001
NM_001378454.1(ALMS1):c.2226A>G (p.Lys742=) rs569911295 0.00001
NM_001378454.1(ALMS1):c.2466A>G (p.Gln822=) rs755661115 0.00001
NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter) rs750326619 0.00001
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=) rs532389598 0.00001
NM_001378454.1(ALMS1):c.325-6T>C rs760582213 0.00001
NM_001378454.1(ALMS1):c.360_363dup (p.Tyr122fs) rs753301358 0.00001
NM_001378454.1(ALMS1):c.3649A>T (p.Lys1217Ter) rs779928593 0.00001
NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter) rs1392057115 0.00001
NM_001378454.1(ALMS1):c.3687_3688del (p.Gly1230fs) rs1296683633 0.00001
NM_001378454.1(ALMS1):c.4180C>T (p.Gln1394Ter) rs969786171 0.00001
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter) rs778728424 0.00001
NM_001378454.1(ALMS1):c.4544del (p.Ala1515fs) rs745461983 0.00001
NM_001378454.1(ALMS1):c.4571C>G (p.Ser1524Ter) rs1558649531 0.00001
NM_001378454.1(ALMS1):c.4743C>G (p.Tyr1581Ter) rs1572935708 0.00001
NM_001378454.1(ALMS1):c.478C>T (p.Gln160Ter) rs1671237172 0.00001
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=) rs762003836 0.00001
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter) rs772136379 0.00001
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala) rs546111188 0.00001
NM_001378454.1(ALMS1):c.5380C>T (p.Gln1794Ter) rs759024519 0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) rs749339938 0.00001
NM_001378454.1(ALMS1):c.6156A>G (p.Val2052=) rs1183098792 0.00001
NM_001378454.1(ALMS1):c.619A>T (p.Arg207Ter) rs771994237 0.00001
NM_001378454.1(ALMS1):c.646+8C>G rs760012033 0.00001
NM_001378454.1(ALMS1):c.6479del (p.His2160fs) rs1200296507 0.00001
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter) rs761713440 0.00001
NM_001378454.1(ALMS1):c.7005T>C (p.Asp2335=) rs781592497 0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_001378454.1(ALMS1):c.753_754insA (p.Ala252fs) rs748892226 0.00001
NM_001378454.1(ALMS1):c.8117A>G (p.Glu2706Gly) rs768090632 0.00001
NM_001378454.1(ALMS1):c.8161C>T (p.Arg2721Ter) rs193919340 0.00001
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs) rs1457913004 0.00001
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=) rs777796888 0.00001
NM_001378454.1(ALMS1):c.9384A>G (p.Val3128=) rs752453102 0.00001
NM_001378454.1(ALMS1):c.9607C>T (p.Gln3203Ter) rs956247442 0.00001
NM_001378454.1(ALMS1):c.9753A>G (p.Gln3251=) rs1553412793 0.00001
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=) rs370267673 0.00001
NM_001378454.1(ALMS1):c.9782-13T>G rs530508947 0.00001
NM_001378454.1(ALMS1):c.9897dup (p.Ser3300fs) rs754702823 0.00001
NM_001378454.1(ALMS1):c.10079-11C>A rs368250605
NM_001378454.1(ALMS1):c.10079-19A>G rs935864365
NM_001378454.1(ALMS1):c.10079-4C>G rs1446726516
NM_001378454.1(ALMS1):c.10131dup (p.Gln3378fs) rs1553416867
NM_001378454.1(ALMS1):c.10132C>T (p.Gln3378Ter) rs2466402650
NM_001378454.1(ALMS1):c.10368A>G (p.Leu3456=) rs929142880
NM_001378454.1(ALMS1):c.10385-7T>G rs1298945759
NM_001378454.1(ALMS1):c.1045A>T (p.Lys349Ter) rs1467207143
NM_001378454.1(ALMS1):c.10488T>A (p.Ile3496=) rs1438143250
NM_001378454.1(ALMS1):c.10535_10536insTGTCTTTCCAAGATTGGAA (p.Lys3512fs) rs1220975714
NM_001378454.1(ALMS1):c.10546C>T (p.Gln3516Ter) rs375019820
NM_001378454.1(ALMS1):c.10731T>C (p.Ile3577=) rs1553418487
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs) rs1553418500
NM_001378454.1(ALMS1):c.1092A>G (p.Lys364=) rs2466047169
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=) rs771595125
NM_001378454.1(ALMS1):c.11414_11418del (p.Arg3805fs) rs2104108070
NM_001378454.1(ALMS1):c.11420_11424del (p.Lys3807fs) rs1553418609
NM_001378454.1(ALMS1):c.11481C>T (p.Ser3827=) rs549156484
NM_001378454.1(ALMS1):c.11514G>C (p.Val3838=) rs2104108533
NM_001378454.1(ALMS1):c.11668+1G>T rs1181992959
NM_001378454.1(ALMS1):c.11669-11del rs1261279730
NM_001378454.1(ALMS1):c.11669-14A>G rs768036112
NM_001378454.1(ALMS1):c.11700del (p.Lys3900fs) rs1553421626
NM_001378454.1(ALMS1):c.11714_11717del (p.Val3905fs) rs932538480
NM_001378454.1(ALMS1):c.11735del (p.Pro3912fs) rs1558711346
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs) rs1247974278
NM_001378454.1(ALMS1):c.11809dup (p.Met3937fs) rs757722767
NM_001378454.1(ALMS1):c.11873-11G>T rs571456553
NM_001378454.1(ALMS1):c.11873-4G>A rs1553421697
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs) rs761292021
NM_001378454.1(ALMS1):c.12083_12086del (p.Leu4028fs) rs1553421741
NM_001378454.1(ALMS1):c.12115-8dup rs748193431
NM_001378454.1(ALMS1):c.12150C>A (p.Ser4050=) rs1553421877
NM_001378454.1(ALMS1):c.12217C>T (p.Gln4073Ter) rs774835325
NM_001378454.1(ALMS1):c.12299-14C>T rs1352077204
NM_001378454.1(ALMS1):c.12299-15T>C rs1553422033
NM_001378454.1(ALMS1):c.12299-15_12299-12del rs775452962
NM_001378454.1(ALMS1):c.12363-5C>G rs774448248
NM_001378454.1(ALMS1):c.12363-6T>G rs1553422641
NM_001378454.1(ALMS1):c.1237+10C>G rs1291450244
NM_001378454.1(ALMS1):c.12402A>G (p.Glu4134=) rs1675868945
NM_001378454.1(ALMS1):c.12462+1del rs750907119
NM_001378454.1(ALMS1):c.12463-10T>C rs754172101
NM_001378454.1(ALMS1):c.12463-9C>G rs1553422761
NM_001378454.1(ALMS1):c.1339-20C>T rs1553401589
NM_001378454.1(ALMS1):c.1339-5A>G rs373469023
NM_001378454.1(ALMS1):c.1339-5A>T rs373469023
NM_001378454.1(ALMS1):c.1339-8C>T rs1553401596
NM_001378454.1(ALMS1):c.1386dup (p.Met463fs) rs2466063041
NM_001378454.1(ALMS1):c.141G>A (p.Glu47=) rs2465970926
NM_001378454.1(ALMS1):c.144A>G (p.Glu48=) rs1670515874
NM_001378454.1(ALMS1):c.1610_1611del (p.Leu537fs) rs1553403282
NM_001378454.1(ALMS1):c.1625T>A (p.Leu542Ter) rs1347176614
NM_001378454.1(ALMS1):c.1900C>T (p.Gln634Ter) rs780843883
NM_001378454.1(ALMS1):c.1941del (p.Val648fs) rs1671852270
NM_001378454.1(ALMS1):c.1A>C (p.Met1Leu) rs1429891881
NM_001378454.1(ALMS1):c.1A>G (p.Met1Val) rs1429891881
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_001378454.1(ALMS1):c.214G>T (p.Glu72Ter) rs2465971353
NM_001378454.1(ALMS1):c.2176del (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs) rs771459937
NM_001378454.1(ALMS1):c.21A>C (p.Pro7=) rs373614102
NM_001378454.1(ALMS1):c.2221dup (p.Thr741fs) rs769291842
NM_001378454.1(ALMS1):c.2293_2296del (p.Ser765fs) rs1457500348
NM_001378454.1(ALMS1):c.2445_2446del (p.Lys816fs) rs765764128
NM_001378454.1(ALMS1):c.2617C>T (p.Gln873Ter) rs1572932845
NM_001378454.1(ALMS1):c.2697del (p.Ile900fs)
NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs) rs1230351650
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs) rs2104060044
NM_001378454.1(ALMS1):c.2896C>T (p.Gln966Ter) rs761177629
NM_001378454.1(ALMS1):c.2912_2915del (p.Asp971fs) rs1671880172
NM_001378454.1(ALMS1):c.2T>G (p.Met1Arg) rs1553396091
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=) rs1402244580
NM_001378454.1(ALMS1):c.324+7C>T rs1230102179
NM_001378454.1(ALMS1):c.325-8A>C rs200740825
NM_001378454.1(ALMS1):c.3337del (p.Glu1113fs) rs1553403656
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs) rs1558648759
NM_001378454.1(ALMS1):c.359_360del (p.Ile120fs) rs1553398842
NM_001378454.1(ALMS1):c.3624T>A (p.Gly1208=)
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs) rs868776324
NM_001378454.1(ALMS1):c.3759G>A (p.Leu1253=) rs2466099301
NM_001378454.1(ALMS1):c.3781G>T (p.Glu1261Ter) rs1085307054
NM_001378454.1(ALMS1):c.3891C>A (p.Tyr1297Ter) rs2103780557
NM_001378454.1(ALMS1):c.3954_3955del (p.Pro1319fs) rs2103780806
NM_001378454.1(ALMS1):c.4002C>G (p.Tyr1334Ter) rs2103780942
NM_001378454.1(ALMS1):c.4249del (p.Arg1417fs) rs1553403851
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter) rs1208636696
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter) rs2466101288
NM_001378454.1(ALMS1):c.4360G>T (p.Glu1454Ter) rs768816557
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter) rs904289501
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=) rs763511170
NM_001378454.1(ALMS1):c.4916_4919del (p.Lys1639fs) rs1439452693
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs) rs1572936092
NM_001378454.1(ALMS1):c.5026C>T (p.Gln1676Ter)
NM_001378454.1(ALMS1):c.5133A>G (p.Leu1711=) rs2103785199
NM_001378454.1(ALMS1):c.5176dup (p.Leu1726fs) rs1553404020
NM_001378454.1(ALMS1):c.5274del (p.Tyr1759fs) rs2103785778
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=) rs778267451
NM_001378454.1(ALMS1):c.5415C>T (p.Ser1805=)
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu) rs200925575
NM_001378454.1(ALMS1):c.5462del (p.Pro1821fs) rs770264966
NM_001378454.1(ALMS1):c.5620A>T (p.Lys1874Ter) rs886038614
NM_001378454.1(ALMS1):c.564del (p.Ser189fs) rs1671239582
NM_001378454.1(ALMS1):c.57G>A (p.Glu19=) rs866503570
NM_001378454.1(ALMS1):c.5825C>G (p.Ser1942Ter) rs755927504
NM_001378454.1(ALMS1):c.5896A>T (p.Lys1966Ter) rs2466106782
NM_001378454.1(ALMS1):c.5966C>A (p.Ser1989Ter) rs777080769
NM_001378454.1(ALMS1):c.5978_5979del (p.Lys1993fs) rs1553404180
NM_001378454.1(ALMS1):c.6319C>T (p.Gln2107Ter) rs2466108740
NM_001378454.1(ALMS1):c.6433C>A (p.Arg2145=) rs770558150
NM_001378454.1(ALMS1):c.6457C>T (p.Gln2153Ter)
NM_001378454.1(ALMS1):c.647-4A>G rs1553400427
NM_001378454.1(ALMS1):c.6483_6486del (p.Thr2162fs) rs1553404252
NM_001378454.1(ALMS1):c.651A>T (p.Ile217=)
NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs) rs1553404310
NM_001378454.1(ALMS1):c.6797T>A (p.Leu2266Ter) rs761071372
NM_001378454.1(ALMS1):c.6837del (p.Pro2280fs) rs1553404337
NM_001378454.1(ALMS1):c.6846C>T (p.Pro2282=) rs2103791656
NM_001378454.1(ALMS1):c.6847dup (p.Leu2283fs) rs1558651349
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs) rs1553404358
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=) rs1455390186
NM_001378454.1(ALMS1):c.7226del (p.Thr2409fs) rs1553404423
NM_001378454.1(ALMS1):c.7237dup (p.Ser2413fs) rs1553404426
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs) rs1370417967
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter) rs2103794046
NM_001378454.1(ALMS1):c.7541-4C>G rs1380143996
NM_001378454.1(ALMS1):c.7611G>A (p.Arg2537=) rs2466115731
NM_001378454.1(ALMS1):c.765-6T>A rs755762723
NM_001378454.1(ALMS1):c.7675-7C>T rs1553409573
NM_001378454.1(ALMS1):c.780G>A (p.Lys260=) rs1553400683
NM_001378454.1(ALMS1):c.7827del (p.Ser2610fs) rs1553409617
NM_001378454.1(ALMS1):c.790dup (p.Thr264fs) rs1307785790
NM_001378454.1(ALMS1):c.803_805del (p.Ser268_Arg269delinsTer) rs758952057
NM_001378454.1(ALMS1):c.8133del (p.Phe2711fs) rs1553409683
NM_001378454.1(ALMS1):c.8141_8148del (p.Ser2714fs) rs1553409686
NM_001378454.1(ALMS1):c.8152dup (p.Ser2718fs) rs1553409691
NM_001378454.1(ALMS1):c.8205T>G (p.Gly2735=) rs2103891015
NM_001378454.1(ALMS1):c.8245dup (p.Val2749fs) rs748621056
NM_001378454.1(ALMS1):c.8250_8254del (p.Asn2751fs) rs2103891188
NM_001378454.1(ALMS1):c.8349_8352del (p.Lys2783_Glu2784insTer) rs1553409710
NM_001378454.1(ALMS1):c.8380C>T (p.Gln2794Ter) rs193919338
NM_001378454.1(ALMS1):c.8550A>G (p.Pro2850=) rs1672956807
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter) rs1270472063
NM_001378454.1(ALMS1):c.8661C>G (p.Leu2887=) rs2103892697
NM_001378454.1(ALMS1):c.8674_8678del (p.Lys2892fs) rs2466216995
NM_001378454.1(ALMS1):c.8718dup (p.Ser2907fs) rs1553409764
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs) rs1553409774
NM_001378454.1(ALMS1):c.8790dup (p.Glu2931Ter) rs1553409778
NM_001378454.1(ALMS1):c.8853A>G (p.Gln2951=) rs1245546946
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup) rs746896173
NM_001378454.1(ALMS1):c.9540-7dup rs750386293
NM_001378454.1(ALMS1):c.9782-11dup rs1553414055
NM_001378454.1(ALMS1):c.9782-6C>T rs1414733616
NM_001378454.1(ALMS1):c.9782-8C>T rs1553414061
NM_001378454.1(ALMS1):c.9801A>G (p.Pro3267=) rs1673992639
NM_001378454.1(ALMS1):c.9804T>A (p.Tyr3268Ter) rs368412850
NM_001378454.1(ALMS1):c.9840A>C (p.Pro3280=) rs1392755260
NM_001378454.1(ALMS1):c.9847A>C (p.Arg3283=) rs1224859058
NM_001378454.1(ALMS1):c.9908-13C>G rs373325114
NM_001378454.1(ALMS1):c.9908-15C>G rs1389556610
NM_001378454.1(ALMS1):c.9919_9923del (p.Ala3307fs) rs1480809832
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter) rs754690894
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del) rs55889738

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.