ClinVar Miner

Variants in gene LAMA2 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:

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
4748 330 0 141 144 1 14 283

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.

pathogenic likely pathogenic uncertain significance likely benign benign protective other
pathogenic 0 89 6 1 0 0 0
likely pathogenic 90 0 8 1 1 1 1
uncertain significance 6 7 0 135 19 0 0
likely benign 1 0 135 0 51 0 0
benign 0 0 19 51 0 0 0

All variants with conflicting interpretations #

Total variants: 283
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_000426.4(LAMA2):c.4523+19C>T rs17057158 0.08168
NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=) rs35313209 0.02285
NM_000426.4(LAMA2):c.1467+38C>T rs78299321 0.02120
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02027
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224 0.01941
NM_000426.4(LAMA2):c.1533T>C (p.Asn511=) rs9492266 0.01938
NM_000426.4(LAMA2):c.1491T>C (p.Cys497=) rs2306220 0.01733
NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=) rs34997144 0.01727
NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=) rs2228599 0.01648
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314 0.01250
NM_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala) rs35889149 0.01170
NM_000426.4(LAMA2):c.112+33371C>T rs139280910 0.00973
NM_000426.4(LAMA2):c.1206+11C>T rs115007959 0.00915
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_000426.4(LAMA2):c.9123C>T (p.Val3041=) rs61749497 0.00858
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00850
NM_000426.4(LAMA2):c.1930C>G (p.His644Asp) rs35879899 0.00835
NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726 0.00720
NM_000426.4(LAMA2):c.1701C>T (p.Ile567=) rs111381107 0.00641
NM_000426.4(LAMA2):c.8774C>T (p.Pro2925Leu) rs77113162 0.00635
NM_000426.4(LAMA2):c.4437-5T>A rs41285288 0.00557
NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=) rs35089085 0.00547
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866 0.00531
NM_000426.4(LAMA2):c.3556-15T>G rs17741922 0.00497
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923 0.00348
NM_000426.4(LAMA2):c.8982T>C (p.Asp2994=) rs79374915 0.00344
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_000426.4(LAMA2):c.3175-25G>A rs2501463 0.00315
NM_000426.4(LAMA2):c.5909G>C (p.Cys1970Ser) rs148451013 0.00314
NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=) rs35579821 0.00306
NM_000426.4(LAMA2):c.6788C>T (p.Thr2263Met) rs56209257 0.00301
NM_000426.4(LAMA2):c.675C>T (p.Ala225=) rs139665175 0.00298
NM_000426.4(LAMA2):c.5247C>T (p.Ala1749=) rs149951387 0.00271
NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe) rs139586720 0.00258
NM_000426.4(LAMA2):c.4959+6G>T rs148060790 0.00236
NM_000426.4(LAMA2):c.411G>A (p.Ala137=) rs149347601 0.00224
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295 0.00224
NM_000426.4(LAMA2):c.6429+8C>A rs199773264 0.00220
NM_000426.4(LAMA2):c.2430A>C (p.Pro810=) rs147572139 0.00185
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186 0.00175
NM_000426.4(LAMA2):c.6279C>T (p.Ala2093=) rs141190803 0.00173
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 0.00169
NM_000426.4(LAMA2):c.7640G>A (p.Gly2547Glu) rs115488979 0.00165
NM_000426.4(LAMA2):c.7111T>G (p.Phe2371Val) rs150644209 0.00164
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=) rs41285286 0.00162
NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile) rs141479751 0.00150
NM_000426.4(LAMA2):c.1782+14T>C rs191215452 0.00147
NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu) rs145310035 0.00147
NM_000426.4(LAMA2):c.2856+13G>A rs149487202 0.00121
NM_000426.4(LAMA2):c.8692A>C (p.Arg2898=) rs200718262 0.00121
NM_000426.4(LAMA2):c.1650C>T (p.Gly550=) rs899353 0.00120
NM_000426.4(LAMA2):c.255C>T (p.Ile85=) rs142083777 0.00115
NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile) rs112388307 0.00096
NM_000426.4(LAMA2):c.2755C>T (p.Arg919Cys) rs138018456 0.00094
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys) rs146462599 0.00092
NM_000426.4(LAMA2):c.1782+10C>T rs200030296 0.00091
NM_000426.4(LAMA2):c.5021G>A (p.Arg1674Lys) rs143333246 0.00090
NM_000426.4(LAMA2):c.6649G>A (p.Val2217Ile) rs147857398 0.00088
NM_000426.4(LAMA2):c.6708-3A>C rs112637707 0.00087
NM_000426.4(LAMA2):c.6697G>A (p.Val2233Ile) rs150945378 0.00086
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00085
NM_000426.4(LAMA2):c.7440-9G>A rs369558532 0.00082
NM_000426.4(LAMA2):c.2323-18T>A rs199846930 0.00081
NM_000426.4(LAMA2):c.8586T>C (p.Tyr2862=) rs142451929 0.00074
NM_000426.4(LAMA2):c.2382C>T (p.Gly794=) rs147744763 0.00070
NM_000426.4(LAMA2):c.7869A>G (p.Glu2623=) rs140658201 0.00067
NM_000426.4(LAMA2):c.7965C>A (p.Ile2655=) rs141101234 0.00067
NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn) rs141340479 0.00067
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) rs34505698 0.00066
NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg) rs138162760 0.00065
NM_000426.4(LAMA2):c.2115T>G (p.Leu705=) rs149753273 0.00065
NM_000426.4(LAMA2):c.3154A>G (p.Ser1052Gly) rs149165006 0.00061
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala) rs78880369 0.00060
NM_000426.4(LAMA2):c.5531G>A (p.Arg1844His) rs150691000 0.00056
NM_000426.4(LAMA2):c.7300+10T>A rs200469923 0.00056
NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser) rs139244736 0.00052
NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg) rs147185142 0.00052
NM_000426.4(LAMA2):c.6506A>G (p.Asn2169Ser) rs144845618 0.00050
NM_000426.4(LAMA2):c.8761G>A (p.Asp2921Asn) rs139159258 0.00048
NM_000426.4(LAMA2):c.1645C>T (p.Pro549Ser) rs139070796 0.00044
NM_000426.4(LAMA2):c.4176+9C>T rs117116822 0.00040
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605 0.00039
NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=) rs62421010 0.00037
NM_000426.4(LAMA2):c.2857-13C>T rs201188972 0.00036
NM_000426.4(LAMA2):c.4944C>T (p.Asn1648=) rs111632017 0.00036
NM_000426.4(LAMA2):c.8977A>G (p.Ile2993Val) rs145331792 0.00036
NM_000426.4(LAMA2):c.2009G>A (p.Arg670His) rs149305108 0.00034
NM_000426.4(LAMA2):c.3582T>C (p.Ile1194=) rs137962409 0.00031
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr) rs146490004 0.00028
NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val) rs146854942 0.00025
NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg) rs139739075 0.00024
NM_000426.4(LAMA2):c.4205G>A (p.Arg1402His) rs144830879 0.00024
NM_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys) rs151009169 0.00023
NM_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu) rs141235562 0.00022
NM_000426.4(LAMA2):c.2304C>T (p.Asp768=) rs142126511 0.00020
NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys) rs374888837 0.00020
NM_000426.4(LAMA2):c.8988+15T>C rs201041465 0.00020
NM_000426.4(LAMA2):c.2325C>A (p.Asn775Lys) rs139351727 0.00019
NM_000426.4(LAMA2):c.4909G>A (p.Glu1637Lys) rs138303386 0.00019
NM_000426.4(LAMA2):c.5558T>G (p.Ile1853Arg) rs141911213 0.00018
NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile) rs371403343 0.00017
NM_000426.4(LAMA2):c.7985T>C (p.Val2662Ala) rs138732723 0.00017
NM_000426.4(LAMA2):c.8989-12C>G rs144860334 0.00017
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys) rs145885540 0.00016
NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met) rs370971334 0.00014
NM_000426.4(LAMA2):c.5291A>G (p.Glu1764Gly) rs141950826 0.00014
NM_000426.4(LAMA2):c.542A>G (p.Asn181Ser) rs143664472 0.00014
NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=) rs140483001 0.00014
NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr) rs780695627 0.00014
NM_000426.4(LAMA2):c.3429C>A (p.Ile1143=) rs200646230 0.00013
NM_000426.4(LAMA2):c.4993G>A (p.Gly1665Arg) rs373997222 0.00012
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp) rs139824017 0.00012
NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter) rs191912891 0.00011
NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys) rs140604077 0.00011
NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser) rs200953311 0.00011
NM_000426.4(LAMA2):c.3597T>C (p.Asp1199=) rs199904029 0.00011
NM_000426.4(LAMA2):c.4992C>T (p.Thr1664=) rs143078882 0.00011
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser) rs143638361 0.00011
NM_000426.4(LAMA2):c.1816A>G (p.Ile606Val) rs113022759 0.00010
NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala) rs139843107 0.00010
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu) rs151049890 0.00010
NM_000426.4(LAMA2):c.9262A>G (p.Ile3088Val) rs768834542 0.00010
NM_000426.4(LAMA2):c.1391C>T (p.Pro464Leu) rs150394215 0.00009
NM_000426.4(LAMA2):c.2736G>A (p.Ala912=) rs142671449 0.00009
NM_000426.4(LAMA2):c.5317C>T (p.Arg1773Trp) rs138695453 0.00009
NM_000426.4(LAMA2):c.553C>T (p.Arg185Cys) rs777977352 0.00009
NM_000426.4(LAMA2):c.8223G>A (p.Thr2741=) rs150596964 0.00009
NM_000426.4(LAMA2):c.3862G>A (p.Val1288Ile) rs758134778 0.00008
NM_000426.4(LAMA2):c.4075A>G (p.Met1359Val) rs749372185 0.00008
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn) rs372592018 0.00008
NM_000426.4(LAMA2):c.6345C>T (p.Pro2115=) rs200364660 0.00007
NM_000426.4(LAMA2):c.8388A>C (p.Glu2796Asp) rs184127828 0.00007
NM_000426.4(LAMA2):c.8524A>G (p.Ile2842Val) rs140178576 0.00007
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter) rs1374568851 0.00006
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr) rs368349321 0.00006
NM_000426.4(LAMA2):c.4157A>T (p.Tyr1386Phe) rs560139751 0.00006
NM_000426.4(LAMA2):c.4301C>T (p.Ser1434Leu) rs368379507 0.00006
NM_000426.4(LAMA2):c.437C>G (p.Ser146Cys) rs143680577 0.00006
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer) rs794727594 0.00006
NM_000426.4(LAMA2):c.7344T>C (p.Asn2448=) rs199931560 0.00006
NM_000426.4(LAMA2):c.7486C>T (p.Leu2496Phe) rs970365005 0.00006
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg) rs370843758 0.00006
NM_000426.4(LAMA2):c.1586G>A (p.Ser529Asn) rs370691060 0.00005
NM_000426.4(LAMA2):c.5469C>T (p.Ser1823=) rs753886576 0.00005
NM_000426.4(LAMA2):c.5562+1G>A rs376014152 0.00005
NM_000426.4(LAMA2):c.7058G>A (p.Arg2353His) rs548483084 0.00005
NM_000426.4(LAMA2):c.7681G>A (p.Gly2561Ser) rs200341138 0.00005
NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile) rs201587923 0.00005
NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg) rs372956200 0.00005
NM_000426.4(LAMA2):c.4983C>T (p.Gly1661=) rs772192888 0.00004
NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val) rs567385461 0.00004
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu) rs398123388 0.00004
NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr) rs794727815 0.00004
NM_000426.4(LAMA2):c.9212-11G>A rs770088527 0.00004
NM_000426.4(LAMA2):c.2451-2A>G rs993196576 0.00003
NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln) rs759973830 0.00003
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn) rs375640462 0.00003
NM_000426.4(LAMA2):c.4960-17C>A rs758048596 0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) rs747349942 0.00003
NM_000426.4(LAMA2):c.5477G>A (p.Arg1826Gln) rs373614496 0.00003
NM_000426.4(LAMA2):c.5553C>T (p.Ser1851=) rs781341719 0.00003
NM_000426.4(LAMA2):c.5688C>T (p.His1896=) rs573779258 0.00003
NM_000426.4(LAMA2):c.6429+10T>G rs770063449 0.00003
NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val) rs75048006 0.00003
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs) rs1209130981 0.00003
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys) rs143626559 0.00002
NM_000426.4(LAMA2):c.283+1G>A rs200288072 0.00002
NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=) rs371376404 0.00002
NM_000426.4(LAMA2):c.4188G>A (p.Pro1396=) rs369076029 0.00002
NM_000426.4(LAMA2):c.4456G>A (p.Ala1486Thr) rs372576669 0.00002
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter) rs369776766 0.00002
NM_000426.4(LAMA2):c.5072-10C>A rs552989582 0.00002
NM_000426.4(LAMA2):c.5562+5G>C rs771046502 0.00002
NM_000426.4(LAMA2):c.6429+1G>T rs1262029350 0.00002
NM_000426.4(LAMA2):c.6567C>T (p.Ala2189=) rs748650667 0.00002
NM_000426.4(LAMA2):c.6786G>A (p.Ser2262=) rs398123382 0.00002
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile) rs199814707 0.00002
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs) rs749566145 0.00002
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs) rs1293303410 0.00002
NM_000426.4(LAMA2):c.8890G>T (p.Val2964Leu) rs202159946 0.00002
NM_000426.4(LAMA2):c.112+1G>A rs398123367 0.00001
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter) rs773209126 0.00001
NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr) rs121913574 0.00001
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg) rs920771326 0.00001
NM_000426.4(LAMA2):c.2376C>T (p.Phe792=) rs150046431 0.00001
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg) rs121913573 0.00001
NM_000426.4(LAMA2):c.2749+1G>C rs759555791 0.00001
NM_000426.4(LAMA2):c.2749+24C>A rs886038292 0.00001
NM_000426.4(LAMA2):c.2749+2dup rs759144210 0.00001
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr) rs374403765 0.00001
NM_000426.4(LAMA2):c.3038-7G>A rs767841898 0.00001
NM_000426.4(LAMA2):c.3556-13T>A rs775278003 0.00001
NM_000426.4(LAMA2):c.3829C>T (p.Arg1277Ter) rs1554269891 0.00001
NM_000426.4(LAMA2):c.396+1G>T rs770617208 0.00001
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) rs200923373 0.00001
NM_000426.4(LAMA2):c.442C>T (p.Arg148Trp) rs752485547 0.00001
NM_000426.4(LAMA2):c.4640C>T (p.Thr1547Met) rs778106503 0.00001
NM_000426.4(LAMA2):c.4717+1G>T rs1131691660 0.00001
NM_000426.4(LAMA2):c.4749C>T (p.Leu1583=) rs754850670 0.00001
NM_000426.4(LAMA2):c.4858A>T (p.Lys1620Ter) rs762342110 0.00001
NM_000426.4(LAMA2):c.488A>T (p.Tyr163Phe) rs201175472 0.00001
NM_000426.4(LAMA2):c.5602G>T (p.Glu1868Ter) rs1276300668 0.00001
NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs) rs398123377 0.00001
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter) rs398123378 0.00001
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter) rs398123383 0.00001
NM_000426.4(LAMA2):c.6993-2A>C rs200669208 0.00001
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915 0.00001
NM_000426.4(LAMA2):c.718T>C (p.Tyr240His) rs3778142 0.00001
NM_000426.4(LAMA2):c.7479C>T (p.Ser2493=) rs368989339 0.00001
NM_000426.4(LAMA2):c.7898+12A>G rs572960610 0.00001
NM_000426.4(LAMA2):c.8244+1G>A rs749522728 0.00001
NM_000426.4(LAMA2):c.8703+1G>A rs1446002589 0.00001
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter) rs1034133545 0.00001
NM_000426.4(LAMA2):c.-2C>A
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter) rs1583169005
NM_000426.4(LAMA2):c.1306+2T>G rs1326401124
NM_000426.4(LAMA2):c.1467+2T>C rs1554234163
NM_000426.4(LAMA2):c.1762del (p.Ala588fs) rs786205654
NM_000426.4(LAMA2):c.176G>A (p.Gly59Glu) rs748303070
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter) rs398123368
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs) rs746844753
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) rs202247790
NM_000426.4(LAMA2):c.236G>A (p.Arg79Lys) rs760219197
NM_000426.4(LAMA2):c.2450+16A>G rs1024374408
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) rs750731624
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter) rs1789395190
NM_000426.4(LAMA2):c.2749+1G>A rs759555791
NM_000426.4(LAMA2):c.2756G>T (p.Arg919Leu) rs35277491
NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter) rs1018100729
NM_000426.4(LAMA2):c.2916del (p.Phe972fs) rs2482334983
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter) rs398123371
NM_000426.4(LAMA2):c.3235T>C (p.Cys1079Arg) rs1583469739
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs) rs727503992
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter) rs121913569
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter) rs775112258
NM_000426.4(LAMA2):c.4222C>G (p.Arg1408Gly) rs780127363
NM_000426.4(LAMA2):c.4312-19_4312-17del rs398123374
NM_000426.4(LAMA2):c.437C>A (p.Ser146Tyr) rs143680577
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe) rs143680577
NM_000426.4(LAMA2):c.4523G>A (p.Arg1508Lys) rs770084568
NM_000426.4(LAMA2):c.4524-2A>T rs1554278541
NM_000426.4(LAMA2):c.4682del (p.Lys1561fs) rs1246940477
NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs) rs774051471
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter) rs553221833
NM_000426.4(LAMA2):c.5038G>T (p.Glu1680Ter) rs1778794887
NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter) rs1008335405
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer) rs1211739649
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs) rs768458445
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter) rs746201268
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.4(LAMA2):c.5530C>T (p.Arg1844Cys) rs56173620
NM_000426.4(LAMA2):c.5866-1G>A rs1064797040
NM_000426.4(LAMA2):c.5910T>A (p.Cys1970Ter) rs1781395670
NM_000426.4(LAMA2):c.6038del (p.Leu2012_Leu2013insTer) rs398123380
NM_000426.4(LAMA2):c.61_62del (p.Gln21fs) rs1554312687
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter) rs1782333085
NM_000426.4(LAMA2):c.6444_6445del (p.Ser2149fs) rs2533416225
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del) rs1363017615
NM_000426.4(LAMA2):c.6617del (p.Phe2206fs) rs867012156
NM_000426.4(LAMA2):c.6706A>C (p.Arg2236=) rs886038293
NM_000426.4(LAMA2):c.6820del (p.Asp2274fs) rs1562581261
NM_000426.4(LAMA2):c.6894dup (p.Phe2299fs)
NM_000426.4(LAMA2):c.6992+5G>A rs1221715098
NM_000426.4(LAMA2):c.7042dup (p.Tyr2348fs) rs2533441401
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs) rs398123385
NM_000426.4(LAMA2):c.7536del (p.Asp2513fs) rs398123387
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs) rs1784335277
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter) rs766920075
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln) rs202247792
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter) rs727502851
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter) rs1784919273
NM_000426.4(LAMA2):c.8244+3_8244+6del rs746678525
NM_000426.4(LAMA2):c.828C>G (p.Tyr276Ter) rs1028599119
NM_000426.4(LAMA2):c.8692del (p.Arg2898fs) rs1785973861
NM_000426.4(LAMA2):c.9149_9155del (p.Ser3050fs) rs1323340608
NM_000426.4(LAMA2):c.9212-15C>A rs55776770
NM_000426.4(LAMA2):c.9222del (p.Lys3074fs) rs1787058325
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter) rs121913571
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile) rs200796753
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) rs1554227092
Single allele

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