ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive nonsyndromic hearing loss 3

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200 0.00024
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_016239.4(MYO15A):c.8080C>A (p.Arg2694Ser) rs371730430 0.00006
NM_016239.4(MYO15A):c.6046+1G>A rs201978571 0.00005
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs) rs1270302810 0.00004
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln) rs368053088 0.00004
NM_016239.4(MYO15A):c.9517+2T>C rs1322423998 0.00004
NM_016239.4(MYO15A):c.1651G>A (p.Ala551Thr) rs747175448 0.00003
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter) rs771720649 0.00003
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) rs748868741 0.00002
NM_016239.4(MYO15A):c.10491+2T>C rs1390498839 0.00001
NM_016239.4(MYO15A):c.263C>T (p.Thr88Met) rs773648511 0.00001
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter) rs763075073 0.00001
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) rs767270134 0.00001
NM_016239.4(MYO15A):c.4898T>C (p.Ile1633Thr) rs576399072 0.00001
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys) rs371352836 0.00001
NM_016239.4(MYO15A):c.6841G>A (p.Asp2281Asn) rs371717411 0.00001
NM_016239.4(MYO15A):c.8324G>A (p.Arg2775His) rs773476384 0.00001
NM_016239.4(MYO15A):c.9765_9766insGG (p.Ile3256fs) rs757070287 0.00001
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016239.4(MYO15A):c.10129dup (p.Ala3377fs) rs2142428987
NM_016239.4(MYO15A):c.10209delinsCCAGGCCCGTGCAGCTC (p.Gln3403fs) rs1057519601
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del) rs760069953
NM_016239.4(MYO15A):c.10294_10308del (p.Pro3432_Ala3436del) rs2142430892
NM_016239.4(MYO15A):c.10351-15T>G
NM_016239.4(MYO15A):c.10360_10362del (p.Val3454del) rs2142436001
NM_016239.4(MYO15A):c.1101del (p.Tyr368fs) rs2142243946
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.1205_1224del (p.Pro402fs) rs2142244867
NM_016239.4(MYO15A):c.1858G>T (p.Glu620Ter) rs1445431722
NM_016239.4(MYO15A):c.1971G>A (p.Trp657Ter) rs1567623176
NM_016239.4(MYO15A):c.2873del (p.Pro958fs) rs1217492313
NM_016239.4(MYO15A):c.3233G>A (p.Trp1078Ter) rs866595552
NM_016239.4(MYO15A):c.346_376del (p.Gly116fs) rs1597747826
NM_016239.4(MYO15A):c.3576G>A (p.Trp1192Ter)
NM_016239.4(MYO15A):c.3904del (p.Met1302fs) rs2142282007
NM_016239.4(MYO15A):c.3932T>C (p.Ile1311Thr) rs1057519603
NM_016239.4(MYO15A):c.4030C>T (p.Gln1344Ter) rs2142283941
NM_016239.4(MYO15A):c.4454T>C (p.Leu1485Pro) rs751973078
NM_016239.4(MYO15A):c.4482+2T>C rs2142307505
NM_016239.4(MYO15A):c.4538C>T (p.Ala1513Val) rs2142315607
NM_016239.4(MYO15A):c.5055dup (p.Asn1686fs) rs1555543836
NM_016239.4(MYO15A):c.5362T>G (p.Cys1788Gly) rs2142335605
NM_016239.4(MYO15A):c.5461del (p.Val1821fs) rs764867438
NM_016239.4(MYO15A):c.5504G>T (p.Arg1835Leu) rs752816535
NM_016239.4(MYO15A):c.5835T>G (p.Tyr1945Ter) rs2142343642
NM_016239.4(MYO15A):c.5886C>A (p.Tyr1962Ter)
NM_016239.4(MYO15A):c.5941G>T (p.Gly1981Trp) rs1240409145
NM_016239.4(MYO15A):c.6045A>T (p.Ala2015=) rs2142347739
NM_016239.4(MYO15A):c.6177+1G>T rs751142446
NM_016239.4(MYO15A):c.6442T>A (p.Trp2148Arg) rs2142355107
NM_016239.4(MYO15A):c.6510-1G>T rs2142360420
NM_016239.4(MYO15A):c.6551_6552del (p.Cys2184fs) rs2142360575
NM_016239.4(MYO15A):c.6611G>A (p.Arg2204His) rs2046512154
NM_016239.4(MYO15A):c.6611G>T (p.Arg2204Leu)
NM_016239.4(MYO15A):c.6764+1G>T rs2046521710
NM_016239.4(MYO15A):c.6864_6874del (p.Asp2289fs) rs2142363190
NM_016239.4(MYO15A):c.7050C>A (p.Tyr2350Ter) rs1330406146
NM_016239.4(MYO15A):c.707A>G (p.Tyr236Cys) rs2045862543
NM_016239.4(MYO15A):c.7313dup (p.Glu2439fs)
NM_016239.4(MYO15A):c.7711_7712dup (p.Gln2571fs) rs1267868260
NM_016239.4(MYO15A):c.7771del (p.Arg2591fs) rs2142370684
NM_016239.4(MYO15A):c.8088+1G>A rs773461233
NM_016239.4(MYO15A):c.8162C>A (p.Thr2721Lys) rs1288328459
NM_016239.4(MYO15A):c.8245_8246del (p.Gln2749fs) rs2142381103
NM_016239.4(MYO15A):c.8285_8308del (p.Val2762_Trp2769del) rs2142381306
NM_016239.4(MYO15A):c.8458A>C (p.Ser2820Arg) rs2142382400
NM_016239.4(MYO15A):c.8601+2T>G
NM_016239.4(MYO15A):c.8789-2A>G
NM_016239.4(MYO15A):c.8791del (p.Trp2931fs) rs2142388348
NM_016239.4(MYO15A):c.8828T>C (p.Phe2943Ser) rs2142388547
NM_016239.4(MYO15A):c.8910del (p.Val2971fs)
NM_016239.4(MYO15A):c.8944C>T (p.Gln2982Ter) rs774312110
NM_016239.4(MYO15A):c.9061C>T (p.Arg3021Ter) rs1567658710
NM_016239.4(MYO15A):c.9084-1G>T rs1567658906
NM_016239.4(MYO15A):c.9341dup (p.Tyr3114Ter)
NM_016239.4(MYO15A):c.9371dup (p.Asn3124fs) rs2046752611
NM_016239.4(MYO15A):c.9443G>A (p.Cys3148Tyr)
NM_016239.4(MYO15A):c.[5192T>C;823G>C]

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