ClinVar Miner

List of variants studied for autosomal recessive nonsyndromic hearing loss 3 by Institute of Rare Diseases, West China Hospital, Sichuan University

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 154
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.3866C>T (p.Pro1289Leu) rs192483691 0.00001
NM_016239.4(MYO15A):c.5597T>C (p.Leu1866Pro) rs1240823956 0.00001
NM_016239.4(MYO15A):c.6292G>A (p.Asp2098Asn) rs727503311 0.00001
NM_016239.4(MYO15A):c.6397A>G (p.Asn2133Asp) rs769491829 0.00001
NM_016239.4(MYO15A):c.10021C>T (p.Gln3341Ter)
NM_016239.4(MYO15A):c.10082+2T>G
NM_016239.4(MYO15A):c.10143G>A (p.Trp3381Ter)
NM_016239.4(MYO15A):c.10156dup (p.Ser3386fs)
NM_016239.4(MYO15A):c.10192del (p.His3398fs)
NM_016239.4(MYO15A):c.10202G>T (p.Arg3401Leu)
NM_016239.4(MYO15A):c.10344_10345dup (p.Thr3449fs)
NM_016239.4(MYO15A):c.10351-1G>C
NM_016239.4(MYO15A):c.10351-2A>G
NM_016239.4(MYO15A):c.10491+1G>A
NM_016239.4(MYO15A):c.1271del (p.Pro424fs)
NM_016239.4(MYO15A):c.1450C>T (p.Gln484Ter)
NM_016239.4(MYO15A):c.1627C>T (p.Gln543Ter)
NM_016239.4(MYO15A):c.1635_1636dup (p.Leu546fs)
NM_016239.4(MYO15A):c.1671del (p.Phe557fs)
NM_016239.4(MYO15A):c.1870del (p.Thr624fs)
NM_016239.4(MYO15A):c.2085del (p.Ser696fs)
NM_016239.4(MYO15A):c.2464G>T (p.Glu822Ter)
NM_016239.4(MYO15A):c.2482C>T (p.Arg828Ter)
NM_016239.4(MYO15A):c.2722G>T (p.Glu908Ter)
NM_016239.4(MYO15A):c.2889_2890del (p.Phe964fs)
NM_016239.4(MYO15A):c.2892del (p.Leu965fs)
NM_016239.4(MYO15A):c.2910del (p.Val971fs)
NM_016239.4(MYO15A):c.3130_3147del (p.Ile1044_Asp1049del)
NM_016239.4(MYO15A):c.3305dup (p.Gly1104_Glu1105insTer)
NM_016239.4(MYO15A):c.3353del (p.Met1118fs)
NM_016239.4(MYO15A):c.3473G>A (p.Trp1158Ter)
NM_016239.4(MYO15A):c.3692+1G>A
NM_016239.4(MYO15A):c.3692+5G>C
NM_016239.4(MYO15A):c.3725T>C (p.Leu1242Pro)
NM_016239.4(MYO15A):c.3755A>G (p.Tyr1252Cys)
NM_016239.4(MYO15A):c.3757A>G (p.Thr1253Ala)
NM_016239.4(MYO15A):c.3763A>T (p.Ile1255Phe)
NM_016239.4(MYO15A):c.3823C>T (p.Gln1275Ter)
NM_016239.4(MYO15A):c.3867dup
NM_016239.4(MYO15A):c.3926A>T (p.Gln1309Leu) rs777366131
NM_016239.4(MYO15A):c.4070T>C (p.Phe1357Ser)
NM_016239.4(MYO15A):c.4109G>A (p.Arg1370His) rs771676248
NM_016239.4(MYO15A):c.4114G>C (p.Gly1372Arg)
NM_016239.4(MYO15A):c.4174_4183del (p.Tyr1392fs)
NM_016239.4(MYO15A):c.4194G>C (p.Arg1398Ser)
NM_016239.4(MYO15A):c.4207-1G>T
NM_016239.4(MYO15A):c.4226del (p.Tyr1409fs)
NM_016239.4(MYO15A):c.4321G>T (p.Gly1441Cys)
NM_016239.4(MYO15A):c.4351G>C (p.Asp1451His)
NM_016239.4(MYO15A):c.4385del (p.Met1462fs)
NM_016239.4(MYO15A):c.4482+1G>A
NM_016239.4(MYO15A):c.4538C>A (p.Ala1513Glu)
NM_016239.4(MYO15A):c.4656-1G>A
NM_016239.4(MYO15A):c.4661C>A (p.Ala1554Asp)
NM_016239.4(MYO15A):c.4671G>C (p.Lys1557Asn)
NM_016239.4(MYO15A):c.4777G>C (p.Glu1593Gln)
NM_016239.4(MYO15A):c.4780-2A>G
NM_016239.4(MYO15A):c.4875G>C (p.Gln1625His)
NM_016239.4(MYO15A):c.4876-1G>A
NM_016239.4(MYO15A):c.4876-2A>T
NM_016239.4(MYO15A):c.4945C>T (p.Leu1649Phe) rs1257912388
NM_016239.4(MYO15A):c.4969dup (p.Ile1657fs)
NM_016239.4(MYO15A):c.4970T>A (p.Ile1657Asn)
NM_016239.4(MYO15A):c.5023T>C (p.Phe1675Leu)
NM_016239.4(MYO15A):c.5036G>A (p.Cys1679Tyr) rs2142328201
NM_016239.4(MYO15A):c.5073del (p.Lys1691fs)
NM_016239.4(MYO15A):c.5245C>T (p.Gln1749Ter)
NM_016239.4(MYO15A):c.5306C>T (p.Thr1769Ile)
NM_016239.4(MYO15A):c.5306_5307del (p.Thr1769fs)
NM_016239.4(MYO15A):c.5309_5310del (p.Val1770fs)
NM_016239.4(MYO15A):c.5361-1G>C
NM_016239.4(MYO15A):c.5385C>A (p.Cys1795Ter)
NM_016239.4(MYO15A):c.5531G>T (p.Arg1844Met)
NM_016239.4(MYO15A):c.5536del (p.Cys1846fs)
NM_016239.4(MYO15A):c.5585G>C (p.Cys1862Ser)
NM_016239.4(MYO15A):c.5651T>C (p.Leu1884Pro)
NM_016239.4(MYO15A):c.5769del (p.Ser1924fs)
NM_016239.4(MYO15A):c.5797C>T (p.Gln1933Ter)
NM_016239.4(MYO15A):c.5859_5869del (p.Lys1954fs)
NM_016239.4(MYO15A):c.6011C>T (p.Pro2004Leu)
NM_016239.4(MYO15A):c.6153del (p.Lys2052fs)
NM_016239.4(MYO15A):c.6226C>T (p.Gln2076Ter)
NM_016239.4(MYO15A):c.6278T>C (p.Leu2093Pro)
NM_016239.4(MYO15A):c.6294C>G (p.Asp2098Glu)
NM_016239.4(MYO15A):c.6301del (p.Leu2101fs)
NM_016239.4(MYO15A):c.6488_6494del (p.Cys2163fs)
NM_016239.4(MYO15A):c.6505del (p.Leu2169fs)
NM_016239.4(MYO15A):c.6509+1G>C
NM_016239.4(MYO15A):c.6541C>T (p.Gln2181Ter)
NM_016239.4(MYO15A):c.6586C>T (p.Gln2196Ter)
NM_016239.4(MYO15A):c.6604dup (p.Ala2202fs)
NM_016239.4(MYO15A):c.6611G>C (p.Arg2204Pro)
NM_016239.4(MYO15A):c.6620C>T (p.Pro2207Leu) rs876657903
NM_016239.4(MYO15A):c.6692-1G>A
NM_016239.4(MYO15A):c.6697C>T (p.Gln2233Ter)
NM_016239.4(MYO15A):c.6716A>C (p.His2239Pro) rs760577812
NM_016239.4(MYO15A):c.6764+2T>C
NM_016239.4(MYO15A):c.6782G>A (p.Trp2261Ter)
NM_016239.4(MYO15A):c.6792G>A (p.Trp2264Ter)
NM_016239.4(MYO15A):c.6823_6832del (p.Ala2275fs)
NM_016239.4(MYO15A):c.6850_6858del (p.Leu2284_Leu2286del)
NM_016239.4(MYO15A):c.6956+6T>C
NM_016239.4(MYO15A):c.6957-1G>C
NM_016239.4(MYO15A):c.7015G>T (p.Glu2339Ter)
NM_016239.4(MYO15A):c.7033del (p.Asp2346fs)
NM_016239.4(MYO15A):c.7235_7241del (p.Ile2412fs)
NM_016239.4(MYO15A):c.7327+5G>C
NM_016239.4(MYO15A):c.7414C>T (p.Gln2472Ter)
NM_016239.4(MYO15A):c.7452_7456dup (p.Arg2486delinsThrTer)
NM_016239.4(MYO15A):c.7854del (p.Gln2620fs)
NM_016239.4(MYO15A):c.7963del (p.Ser2655fs)
NM_016239.4(MYO15A):c.7966+1G>A
NM_016239.4(MYO15A):c.7967-2A>C
NM_016239.4(MYO15A):c.7996_8008dup (p.Gln2670fs)
NM_016239.4(MYO15A):c.8008C>T (p.Gln2670Ter)
NM_016239.4(MYO15A):c.8049del (p.Tyr2684fs)
NM_016239.4(MYO15A):c.8315A>G (p.Tyr2772Cys)
NM_016239.4(MYO15A):c.8378C>A (p.Ser2793Tyr)
NM_016239.4(MYO15A):c.8403del (p.Met2802fs)
NM_016239.4(MYO15A):c.8459+1G>A
NM_016239.4(MYO15A):c.8459+2T>A
NM_016239.4(MYO15A):c.8559_8599del (p.Val2854fs)
NM_016239.4(MYO15A):c.8561T>G (p.Val2854Gly)
NM_016239.4(MYO15A):c.8613C>A (p.Tyr2871Ter)
NM_016239.4(MYO15A):c.8662_8696dup (p.Glu2900fs)
NM_016239.4(MYO15A):c.8680A>G (p.Ile2894Val)
NM_016239.4(MYO15A):c.8681T>C (p.Ile2894Thr) rs2142386490
NM_016239.4(MYO15A):c.8713+1G>A
NM_016239.4(MYO15A):c.8788+1G>A
NM_016239.4(MYO15A):c.8788+2T>C
NM_016239.4(MYO15A):c.8788G>T (p.Gly2930Cys)
NM_016239.4(MYO15A):c.8824_8825insA (p.Arg2942fs)
NM_016239.4(MYO15A):c.9156+1G>T
NM_016239.4(MYO15A):c.9193dup (p.Ser3065fs)
NM_016239.4(MYO15A):c.9196del (p.Ser3066fs)
NM_016239.4(MYO15A):c.9207del (p.Met3070fs)
NM_016239.4(MYO15A):c.9229G>A (p.Ala3077Thr)
NM_016239.4(MYO15A):c.9229G>C (p.Ala3077Pro)
NM_016239.4(MYO15A):c.9230-1G>C
NM_016239.4(MYO15A):c.9304-1G>C
NM_016239.4(MYO15A):c.9309C>A (p.Cys3103Ter)
NM_016239.4(MYO15A):c.9342C>A (p.Tyr3114Ter)
NM_016239.4(MYO15A):c.9387-2A>G
NM_016239.4(MYO15A):c.9407G>A (p.Trp3136Ter)
NM_016239.4(MYO15A):c.9408G>A (p.Trp3136Ter)
NM_016239.4(MYO15A):c.9517G>T (p.Gly3173Trp)
NM_016239.4(MYO15A):c.9569del (p.Gly3190fs)
NM_016239.4(MYO15A):c.9690+2T>A
NM_016239.4(MYO15A):c.96del (p.Thr33fs)
NM_016239.4(MYO15A):c.9774del (p.Val3259fs)
NM_016239.4(MYO15A):c.9787+2T>C
NM_016239.4(MYO15A):c.9787G>A (p.Gly3263Ser)
NM_016239.4(MYO15A):c.9788-2A>C
NM_016239.4(MYO15A):c.9808dup (p.Ser3270fs)

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