ClinVar Miner

Variants in gene FRAS1 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
3067 320 0 96 75 0 4 157

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
pathogenic 0 19 2 0 0
likely pathogenic 19 0 3 0 0
uncertain significance 2 3 0 73 15
likely benign 0 0 73 0 77
benign 0 0 15 77 0

All variants with conflicting interpretations #

Total variants: 157
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val) rs6835769 0.43159
NM_025074.7(FRAS1):c.3151+14_3151+15dup rs398092530 0.38519
NM_025074.7(FRAS1):c.308A>T (p.Glu103Val) rs78711748 0.01459
NM_025074.7(FRAS1):c.979C>T (p.Arg327Trp) rs61999335 0.01455
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr) rs61748814 0.01397
NM_025074.7(FRAS1):c.8417C>T (p.Thr2806Met) rs114190041 0.01251
NM_025074.7(FRAS1):c.1769T>C (p.Met590Thr) rs35030041 0.01189
NM_025074.7(FRAS1):c.10230C>T (p.Tyr3410=) rs34034599 0.01152
NM_025074.7(FRAS1):c.9955C>G (p.Gln3319Glu) rs78619145 0.01150
NM_025074.7(FRAS1):c.3951G>A (p.Leu1317=) rs76107832 0.01090
NM_025074.7(FRAS1):c.1416C>T (p.Cys472=) rs35690113 0.01047
NM_025074.7(FRAS1):c.7074C>T (p.Gly2358=) rs7660641 0.01013
NM_025074.7(FRAS1):c.518G>A (p.Arg173Gln) rs147332320 0.00966
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile) rs34271211 0.00909
NM_025074.7(FRAS1):c.11855T>C (p.Val3952Ala) rs35379534 0.00889
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=) rs17003124 0.00783
NM_025074.7(FRAS1):c.4143T>C (p.Leu1381=) rs113301188 0.00634
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00571
NM_025074.7(FRAS1):c.2575+20A>C rs80008695 0.00511
NM_025074.7(FRAS1):c.10312G>A (p.Val3438Met) rs34063631 0.00478
NM_025074.7(FRAS1):c.9853C>T (p.His3285Tyr) rs182196851 0.00436
NM_025074.7(FRAS1):c.8215G>A (p.Ala2739Thr) rs192476468 0.00393
NM_025074.7(FRAS1):c.10149C>T (p.Thr3383=) rs35321934 0.00379
NM_025074.7(FRAS1):c.5665+18A>T rs140398472 0.00357
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro) rs137982616 0.00350
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu) rs35219594 0.00344
NM_025074.7(FRAS1):c.11227A>G (p.Ile3743Val) rs35370270 0.00330
NM_025074.7(FRAS1):c.806G>A (p.Arg269Gln) rs202231425 0.00313
NM_025074.7(FRAS1):c.6301C>T (p.His2101Tyr) rs183398121 0.00302
NM_025074.7(FRAS1):c.12039A>G (p.Ter4013=) rs61734892 0.00299
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=) rs114854941 0.00296
NM_025074.7(FRAS1):c.6584A>G (p.Glu2195Gly) rs10029227 0.00285
NM_025074.7(FRAS1):c.11724T>C (p.Ser3908=) rs151307846 0.00264
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) rs148663672 0.00259
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln) rs140492803 0.00257
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp) rs1872267 0.00253
NM_025074.7(FRAS1):c.7033G>A (p.Glu2345Lys) rs56291926 0.00241
NM_025074.7(FRAS1):c.2861C>T (p.Thr954Met) rs17003166 0.00238
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val) rs145035489 0.00236
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val) rs144715071 0.00232
NM_025074.7(FRAS1):c.9553G>A (p.Gly3185Arg) rs202095663 0.00230
NM_025074.7(FRAS1):c.4969+9A>C rs147019759 0.00200
NM_025074.7(FRAS1):c.5374G>A (p.Ala1792Thr) rs150916370 0.00194
NM_025074.7(FRAS1):c.8973G>A (p.Thr2991=) rs187612429 0.00175
NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser) rs144530996 0.00170
NM_025074.7(FRAS1):c.7652A>G (p.Gln2551Arg) rs183712679 0.00169
NM_025074.7(FRAS1):c.7029+7G>A rs183687186 0.00151
NM_025074.7(FRAS1):c.789+12T>G rs142206350 0.00142
NM_025074.7(FRAS1):c.5947C>T (p.Leu1983=) rs74893124 0.00138
NM_025074.7(FRAS1):c.4958C>T (p.Pro1653Leu) rs6813102 0.00134
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu) rs199510509 0.00133
NM_025074.7(FRAS1):c.108+10T>G rs76831011 0.00132
NM_025074.7(FRAS1):c.10171T>C (p.Ser3391Pro) rs180949557 0.00131
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe) rs201369510 0.00131
NM_025074.7(FRAS1):c.4815G>A (p.Ala1605=) rs201188262 0.00116
NM_025074.7(FRAS1):c.4959G>A (p.Pro1653=) rs372154997 0.00112
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu) rs200053639 0.00107
NM_025074.7(FRAS1):c.6763+12A>G rs185282133 0.00102
NM_025074.7(FRAS1):c.10237C>T (p.Pro3413Ser) rs189612722 0.00101
NM_025074.7(FRAS1):c.9228C>T (p.Thr3076=) rs369529123 0.00099
NM_025074.7(FRAS1):c.527G>A (p.Arg176Gln) rs183328334 0.00096
NM_025074.7(FRAS1):c.2956G>A (p.Ala986Thr) rs111554790 0.00092
NM_025074.7(FRAS1):c.4160C>T (p.Ala1387Val) rs201864889 0.00091
NM_025074.7(FRAS1):c.4159G>T (p.Ala1387Ser) rs200689785 0.00089
NM_025074.7(FRAS1):c.10539A>G (p.Thr3513=) rs199921300 0.00088
NM_025074.7(FRAS1):c.4095C>T (p.Ile1365=) rs79869130 0.00085
NM_025074.7(FRAS1):c.9446C>T (p.Thr3149Met) rs150680111 0.00080
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys) rs147869493 0.00078
NM_025074.7(FRAS1):c.886G>A (p.Glu296Lys) rs186811333 0.00074
NM_025074.7(FRAS1):c.4634C>T (p.Pro1545Leu) rs201675499 0.00073
NM_025074.7(FRAS1):c.9296G>A (p.Arg3099Gln) rs149692526 0.00071
NM_025074.7(FRAS1):c.1783G>A (p.Gly595Ser) rs149843493 0.00070
NM_025074.7(FRAS1):c.6939C>T (p.Pro2313=) rs150936204 0.00070
NM_025074.7(FRAS1):c.9827T>C (p.Val3276Ala) rs78006948 0.00061
NM_025074.7(FRAS1):c.1982C>T (p.Ala661Val) rs115496853 0.00058
NM_025074.7(FRAS1):c.969G>A (p.Val323=) rs377333036 0.00056
NM_025074.7(FRAS1):c.10077G>A (p.Pro3359=) rs183724131 0.00055
NM_025074.7(FRAS1):c.3514G>A (p.Asp1172Asn) rs116378993 0.00055
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser) rs112039037 0.00051
NM_025074.7(FRAS1):c.3010+9G>A rs148841455 0.00051
NM_025074.7(FRAS1):c.11274C>A (p.His3758Gln) rs147719256 0.00048
NM_025074.7(FRAS1):c.5725G>A (p.Val1909Ile) rs182652779 0.00047
NM_025074.7(FRAS1):c.3065A>C (p.Lys1022Thr) rs201252328 0.00040
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) rs200346497 0.00039
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=) rs377369857 0.00035
NM_025074.7(FRAS1):c.7451C>T (p.Thr2484Met) rs200888184 0.00034
NM_025074.7(FRAS1):c.4334C>T (p.Thr1445Ile) rs200123789 0.00032
NM_025074.7(FRAS1):c.6530T>C (p.Val2177Ala) rs76345011 0.00030
NM_025074.7(FRAS1):c.1635C>T (p.Ser545=) rs528765554 0.00029
NM_025074.7(FRAS1):c.8341C>T (p.Arg2781Cys) rs190483418 0.00025
NM_025074.7(FRAS1):c.4711+16A>C rs779954183 0.00022
NM_025074.7(FRAS1):c.6569C>T (p.Ser2190Phe) rs200166354 0.00021
NM_025074.7(FRAS1):c.3700G>A (p.Ala1234Thr) rs199940702 0.00019
NM_025074.7(FRAS1):c.10008G>A (p.Pro3336=) rs76120498 0.00017
NM_025074.7(FRAS1):c.10234C>T (p.Arg3412Cys) rs187826477 0.00017
NM_025074.7(FRAS1):c.990A>G (p.Glu330=) rs374045395 0.00017
NM_025074.7(FRAS1):c.4308+10G>T rs146718957 0.00016
NM_025074.7(FRAS1):c.9356A>G (p.Asn3119Ser) rs191105001 0.00016
NM_025074.7(FRAS1):c.11695C>T (p.Leu3899=) rs367723684 0.00015
NM_025074.7(FRAS1):c.6286C>T (p.Arg2096Cys) rs193229946 0.00014
NM_025074.7(FRAS1):c.10128C>T (p.His3376=) rs369331788 0.00013
NM_025074.7(FRAS1):c.1255+10T>C rs540508144 0.00012
NM_025074.7(FRAS1):c.1609G>A (p.Val537Met) rs367598897 0.00012
NM_025074.7(FRAS1):c.2862G>A (p.Thr954=) rs144065807 0.00011
NM_025074.7(FRAS1):c.237T>C (p.Ala79=) rs370345916 0.00010
NM_025074.7(FRAS1):c.2962G>A (p.Val988Met) rs368228939 0.00010
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala) rs376487875 0.00010
NM_025074.7(FRAS1):c.4729A>T (p.Thr1577Ser) rs183594682 0.00010
NM_025074.7(FRAS1):c.10425C>T (p.His3475=) rs376096303 0.00009
NM_025074.7(FRAS1):c.2835G>A (p.Gln945=) rs137923783 0.00009
NM_025074.7(FRAS1):c.1503C>T (p.Asp501=) rs370655417 0.00008
NM_025074.7(FRAS1):c.39G>A (p.Ala13=) rs773457837 0.00007
NM_025074.7(FRAS1):c.8131T>C (p.Tyr2711His) rs541053205 0.00007
NM_025074.7(FRAS1):c.1072-5C>T rs570183677 0.00006
NM_025074.7(FRAS1):c.4455G>T (p.Gln1485His) rs532738580 0.00006
NM_025074.7(FRAS1):c.1535-4G>A rs749569960 0.00005
NM_025074.7(FRAS1):c.4807C>T (p.Arg1603Trp) rs961911715 0.00005
NM_025074.7(FRAS1):c.4843+2T>C rs370018000 0.00005
NM_025074.7(FRAS1):c.9628G>A (p.Ala3210Thr) rs145189350 0.00005
NM_025074.7(FRAS1):c.5218-9C>T rs369761349 0.00004
NM_025074.7(FRAS1):c.9450G>T (p.Val3150=) rs372168929 0.00004
NM_025074.7(FRAS1):c.11298+1G>A rs371268544 0.00003
NM_025074.7(FRAS1):c.8752+9T>C rs191984935 0.00003
NM_025074.7(FRAS1):c.10389G>A (p.Gln3463=) rs757163658 0.00002
NM_025074.7(FRAS1):c.11880C>T (p.Asp3960=) rs773621376 0.00002
NM_025074.7(FRAS1):c.3010+1G>A rs574631014 0.00002
NM_025074.7(FRAS1):c.10261C>T (p.Arg3421Ter) rs201947516 0.00001
NM_025074.7(FRAS1):c.10540+4T>G rs772401904 0.00001
NM_025074.7(FRAS1):c.2570G>T (p.Cys857Phe) rs1399826348 0.00001
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter) rs755750961 0.00001
NM_025074.7(FRAS1):c.2722+1G>A rs794727365 0.00001
NM_025074.7(FRAS1):c.3191G>T (p.Arg1064Leu) rs779286671 0.00001
NM_025074.7(FRAS1):c.4098C>T (p.Ile1366=) rs1027609786 0.00001
NM_025074.7(FRAS1):c.4183C>T (p.Gln1395Ter) rs1733155852 0.00001
NM_025074.7(FRAS1):c.4259G>A (p.Trp1420Ter) rs753263924 0.00001
NM_025074.7(FRAS1):c.6010G>A (p.Gly2004Ser) rs771251344 0.00001
NM_025074.7(FRAS1):c.6876T>C (p.Asp2292=) rs779794904 0.00001
NM_025074.7(FRAS1):c.7084C>T (p.Arg2362Ter) rs777438557 0.00001
NM_025074.7(FRAS1):c.7285C>T (p.Arg2429Ter) rs760890625 0.00001
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204 0.00001
NM_025074.7(FRAS1):c.8283C>T (p.Ser2761=) rs374258390 0.00001
NM_025074.7(FRAS1):c.109-15del rs548267943
NM_025074.7(FRAS1):c.11544del (p.Arg3849fs) rs776789412
NM_025074.7(FRAS1):c.1887dup (p.Lys630fs) rs776570778
NM_025074.7(FRAS1):c.2571del (p.Ala856_Cys857insTer) rs1560681144
NM_025074.7(FRAS1):c.4365G>C (p.Ala1455=) rs375417798
NM_025074.7(FRAS1):c.4857A>G (p.Val1619=) rs886044144
NM_025074.7(FRAS1):c.5125C>T (p.Arg1709Ter) rs775517752
NM_025074.7(FRAS1):c.5474T>G (p.Met1825Arg) rs200477457
NM_025074.7(FRAS1):c.5927_5928del (p.Ile1976fs) rs1718846418
NM_025074.7(FRAS1):c.6009C>T (p.His2003=) rs114108086
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter) rs756005814
NM_025074.7(FRAS1):c.6963_6964dup (p.Val2322fs) rs730882179
NM_025074.7(FRAS1):c.7029+9A>C rs188606284
NM_025074.7(FRAS1):c.8353del (p.Val2785fs) rs774872512
NM_025074.7(FRAS1):c.8846A>T (p.Tyr2949Phe) rs200212920

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