ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive nonsyndromic hearing loss 1A

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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004004.6(GJB2):c.238C>T (p.Gln80Ter) rs199883710 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_004004.6(GJB2):c.533T>C (p.Val178Ala) rs568612627 0.00004
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203 0.00002
NM_004004.6(GJB2):c.298del (p.His100fs) rs775828835 0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289 0.00002
NM_004004.6(GJB2):c.598G>T (p.Gly200Ter) rs786204597 0.00002
NM_000082.4(ERCC8):c.478G>A (p.Ala160Thr) rs281875222 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.134G>A (p.Gly45Glu) rs72561723 0.00001
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter) rs111033451 0.00001
NM_004004.6(GJB2):c.239A>C (p.Gln80Pro) rs727504302 0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323 0.00001
NM_004004.6(GJB2):c.279G>A (p.Met93Ile) rs397516871 0.00001
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004004.6(GJB2):c.408C>A (p.Tyr136Ter) rs786204690 0.00001
NM_004004.6(GJB2):c.40A>G (p.Asn14Asp) rs1476034902 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NC_000013.11:g.20188982_20188990delinsGAATGTCATGAACACTG rs111033335
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.119C>G (p.Ala40Gly) rs111033296
NM_004004.6(GJB2):c.11del (p.Gly4fs) rs1555342014
NM_004004.6(GJB2):c.130_131del (p.Trp44fs) rs1555341993
NM_004004.6(GJB2):c.134del (p.Gly45fs) rs1057517491
NM_004004.6(GJB2):c.158G>T (p.Cys53Phe) rs587783645
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.1A>T (p.Met1Leu) rs111033293
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.232G>A (p.Ala78Thr) rs1959060696
NM_004004.6(GJB2):c.232dup (p.Ala78fs) rs1555341960
NM_004004.6(GJB2):c.239dup (p.Leu81fs) rs1555341954
NM_004004.6(GJB2):c.247_249del (p.Phe83del) rs2137308192
NM_004004.6(GJB2):c.257del (p.Thr86fs) rs1555341949
NM_004004.6(GJB2):c.2T>G (p.Met1Arg) rs371086981
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.338_341dup (p.Glu114_Phe115insTer) rs1555341926
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.385G>T (p.Glu129Ter) rs397516875
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.409A>C (p.Thr137Pro) rs2137307658
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln) rs104894401
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter) rs111033420
NM_004004.6(GJB2):c.458_475dup (p.Tyr158_Asp159insValPheTyrValMetTyr)
NM_004004.6(GJB2):c.464A>G (p.Tyr155Cys) rs776335807
NM_004004.6(GJB2):c.49_50del (p.Ser17fs) rs1555342007
NM_004004.6(GJB2):c.505T>C (p.Cys169Arg) rs760489970
NM_004004.6(GJB2):c.514del (p.Trp172fs) rs1057517508
NM_004004.6(GJB2):c.516G>C (p.Trp172Cys) rs1302739538
NM_004004.6(GJB2):c.517C>T (p.Pro173Ser) rs1959056736
NM_004004.6(GJB2):c.564_565del (p.Lys188fs) rs770116143
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.575_576del (p.Thr192fs) rs1057517521
NM_004004.6(GJB2):c.585G>C (p.Met195Ile) rs570552952
NM_004004.6(GJB2):c.598G>A (p.Gly200Arg) rs786204597
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.645del (p.Arg216fs) rs1555341794
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.668_671del (p.Lys223fs) rs1555341783
NM_004004.6(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu) rs111033190

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