ClinVar Miner

List of variants in gene GJB3 studied for not provided

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Gene type:
ClinVar version:
Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_024009.3(GJB3):c.*53G>A rs476220 0.49114
NM_024009.3(GJB3):c.*369G>C rs2236214 0.23276
NM_024009.3(GJB3):c.*559G>C rs9118 0.19529
NM_024009.3(GJB3):c.*43C>A rs41266429 0.11622
NM_024009.3(GJB3):c.*493C>T rs13774 0.09992
NM_024009.3(GJB3):c.798C>T (p.Asn266=) rs35983826 0.09056
NM_024009.3(GJB3):c.357C>T (p.Asn119=) rs41310442 0.07121
NM_024009.3(GJB3):c.598G>A (p.Val200Ile) rs61734064 0.02803
NM_024009.3(GJB3):c.-25-46A>G rs76376530 0.02797
NM_024009.3(GJB3):c.477G>A (p.Pro159=) rs61732640 0.02796
NM_024009.3(GJB3):c.567C>T (p.Tyr189=) rs61732307 0.02220
NM_024009.3(GJB3):c.94C>T (p.Arg32Trp) rs1805063 0.02177
NM_024009.3(GJB3):c.*231G>A rs72898302 0.01235
NM_024009.3(GJB3):c.529T>G (p.Tyr177Asp) rs80297119 0.00582
NM_024009.3(GJB3):c.579C>T (p.Gly193=) rs61744512 0.00526
NM_024009.3(GJB3):c.*218C>A rs78145978 0.00481
NM_024009.3(GJB3):c.313C>A (p.His105Asn) rs150245955 0.00233
NM_024009.3(GJB3):c.187G>A (p.Val63Ile) rs61732295 0.00118
NM_024009.3(GJB3):c.580G>A (p.Ala194Thr) rs117385606 0.00039
NM_024009.3(GJB3):c.282C>T (p.His94=) rs144131831 0.00036
NM_024009.3(GJB3):c.-4C>T rs200902087 0.00034
NM_024009.3(GJB3):c.223C>T (p.Arg75Cys) rs370476720 0.00034
NM_024009.3(GJB3):c.264G>A (p.Ser88=) rs201469743 0.00026
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318 0.00019
NM_024009.3(GJB3):c.*434G>A rs567318744 0.00018
NM_024009.3(GJB3):c.667C>A (p.Pro223Thr) rs373815705 0.00017
NM_024009.3(GJB3):c.334C>A (p.Gln112Lys) rs544836576 0.00016
NM_024009.3(GJB3):c.197A>G (p.Asp66Gly) rs145542354 0.00014
NM_024009.3(GJB3):c.316C>T (p.Arg106Cys) rs147106166 0.00014
NM_024009.3(GJB3):c.79G>A (p.Val27Met) rs775072109 0.00014
NM_024009.3(GJB3):c.250G>A (p.Val84Ile) rs145751680 0.00013
NM_024009.3(GJB3):c.123G>T (p.Glu41Asp) rs147459176 0.00012
NM_024009.3(GJB3):c.372C>T (p.His124=) rs145436095 0.00012
NM_024009.3(GJB3):c.33C>T (p.Ser11=) rs112499125 0.00010
NM_024009.3(GJB3):c.57G>A (p.Ala19=) rs77186953 0.00008
NM_024009.3(GJB3):c.340G>A (p.Ala114Thr) rs199689484 0.00007
NM_024009.3(GJB3):c.53C>T (p.Thr18Ile) rs755025684 0.00007
NM_024009.3(GJB3):c.219C>A (p.Asn73Lys) rs762735971 0.00006
NM_024009.3(GJB3):c.293G>A (p.Arg98His) rs201314683 0.00006
NM_024009.3(GJB3):c.546C>T (p.Thr182=) rs370947069 0.00006
NM_024009.3(GJB3):c.99G>A (p.Val33=) rs727504610 0.00006
NM_024009.3(GJB3):c.177C>A (p.Gly59=) rs780675578 0.00005
NM_024009.3(GJB3):c.352G>A (p.Asp118Asn) rs373400072 0.00005
NM_024009.3(GJB3):c.719G>A (p.Arg240His) rs545569060 0.00005
NM_024009.3(GJB3):c.196G>A (p.Asp66Asn) rs201937833 0.00004
NM_024009.3(GJB3):c.292C>T (p.Arg98Cys) rs151179820 0.00004
NM_024009.3(GJB3):c.328G>A (p.Gly110Arg) rs143866277 0.00004
NM_024009.3(GJB3):c.373G>A (p.Gly125Arg) rs753289516 0.00004
NM_024009.3(GJB3):c.499G>A (p.Val167Met) rs376748531 0.00004
NM_024009.3(GJB3):c.61G>A (p.Gly21Arg) rs749654470 0.00004
NM_024009.3(GJB3):c.647G>A (p.Arg216Gln) rs751280813 0.00004
NM_024009.3(GJB3):c.660G>A (p.Lys220=) rs777765331 0.00004
NM_024009.3(GJB3):c.186C>T (p.Asn62=) rs373186826 0.00003
NM_024009.3(GJB3):c.538C>T (p.Arg180Ter) rs74315319 0.00003
NM_024009.3(GJB3):c.589G>A (p.Val197Ile) rs376506263 0.00003
NM_024009.3(GJB3):c.65G>A (p.Arg22His) rs551762597 0.00003
NM_024009.3(GJB3):c.302G>A (p.Arg101Gln) rs765605645 0.00002
NM_024009.3(GJB3):c.642C>A (p.Val214=) rs970682269 0.00002
NM_024009.3(GJB3):c.646C>T (p.Arg216Ter) rs201005859 0.00002
NM_024009.3(GJB3):c.-3G>A rs200397530 0.00001
NM_024009.3(GJB3):c.126C>T (p.Arg42=) rs776320459 0.00001
NM_024009.3(GJB3):c.166A>C (p.Lys56Gln) rs746219527 0.00001
NM_024009.3(GJB3):c.174C>T (p.Pro58=) rs759040521 0.00001
NM_024009.3(GJB3):c.224G>A (p.Arg75His) rs759343166 0.00001
NM_024009.3(GJB3):c.235C>T (p.Leu79=) rs1033089288 0.00001
NM_024009.3(GJB3):c.283G>A (p.Val95Met) rs777376931 0.00001
NM_024009.3(GJB3):c.297G>A (p.Glu99=) rs1571580224 0.00001
NM_024009.3(GJB3):c.317G>A (p.Arg106His) rs369979083 0.00001
NM_024009.3(GJB3):c.541C>A (p.Pro181Thr) rs1318573278 0.00001
NM_024009.3(GJB3):c.64C>T (p.Arg22Cys) rs145247495 0.00001
NM_024009.3(GJB3):c.703C>T (p.Arg235Ter) rs144964568 0.00001
NM_024009.3(GJB3):c.718C>T (p.Arg240Cys) rs753842104 0.00001
NM_024009.3(GJB3):c.726C>G (p.His242Gln) rs751625300 0.00001
NM_024009.3(GJB3):c.727C>T (p.His243Tyr) rs1455391539 0.00001
NM_024009.3(GJB3):c.781C>T (p.Gln261Ter) rs1290685624 0.00001
NM_024009.3(GJB3):c.-141C>G rs113824402
NM_024009.3(GJB3):c.104T>C (p.Val35Ala)
NM_024009.3(GJB3):c.108C>T (p.Tyr36=)
NM_024009.3(GJB3):c.109G>A (p.Val37Met) rs148388884
NM_024009.3(GJB3):c.109G>C (p.Val37Leu) rs148388884
NM_024009.3(GJB3):c.110T>A (p.Val37Glu) rs1064794946
NM_024009.3(GJB3):c.128T>C (p.Val43Ala)
NM_024009.3(GJB3):c.130T>A (p.Trp44Arg)
NM_024009.3(GJB3):c.130del (p.Trp44fs)
NM_024009.3(GJB3):c.131G>C (p.Trp44Ser)
NM_024009.3(GJB3):c.132G>A (p.Trp44Ter)
NM_024009.3(GJB3):c.134G>C (p.Gly45Ala) rs2148354097
NM_024009.3(GJB3):c.139G>A (p.Glu47Lys)
NM_024009.3(GJB3):c.157dup (p.Cys53fs)
NM_024009.3(GJB3):c.161A>C (p.Asn54Thr)
NM_024009.3(GJB3):c.175G>A (p.Gly59Ser)
NM_024009.3(GJB3):c.195C>T (p.Tyr65=)
NM_024009.3(GJB3):c.196_198del (p.Asp66del) rs786200895
NM_024009.3(GJB3):c.1A>G (p.Met1Val)
NM_024009.3(GJB3):c.233C>A (p.Ala78Asp)
NM_024009.3(GJB3):c.241C>G (p.Leu81Val)
NM_024009.3(GJB3):c.243C>T (p.Leu81=)
NM_024009.3(GJB3):c.247T>C (p.Phe83Leu)
NM_024009.3(GJB3):c.255A>G (p.Thr85=)
NM_024009.3(GJB3):c.258C>A (p.Cys86Ter)
NM_024009.3(GJB3):c.262T>G (p.Ser88Ala)
NM_024009.3(GJB3):c.292C>A (p.Arg98Ser)
NM_024009.3(GJB3):c.295G>A (p.Glu99Lys)
NM_024009.3(GJB3):c.298G>A (p.Glu100Lys) rs1028370381
NM_024009.3(GJB3):c.301C>T (p.Arg101Trp)
NM_024009.3(GJB3):c.311G>A (p.Arg104Gln)
NM_024009.3(GJB3):c.321G>C (p.Gln107His) rs2148354284
NM_024009.3(GJB3):c.325C>A (p.His109Asn) rs2148354286
NM_024009.3(GJB3):c.335A>G (p.Gln112Arg)
NM_024009.3(GJB3):c.337T>C (p.Cys113Arg) rs372771182
NM_024009.3(GJB3):c.339C>T (p.Cys113=)
NM_024009.3(GJB3):c.341C>A (p.Ala114Asp) rs770903071
NM_024009.3(GJB3):c.341C>T (p.Ala114Val)
NM_024009.3(GJB3):c.342del (p.Lys115fs) rs748575478
NM_024009.3(GJB3):c.344A>C (p.Lys115Thr)
NM_024009.3(GJB3):c.34G>A (p.Gly12Ser)
NM_024009.3(GJB3):c.358G>A (p.Ala120Thr)
NM_024009.3(GJB3):c.35G>A (p.Gly12Asp) rs74315316
NM_024009.3(GJB3):c.378C>T (p.Gly126=)
NM_024009.3(GJB3):c.379_387delinsTTCTTGGA (p.Leu127fs) rs1057517737
NM_024009.3(GJB3):c.381G>A (p.Leu127=) rs2148354345
NM_024009.3(GJB3):c.386G>A (p.Trp129Ter) rs1288502406
NM_024009.3(GJB3):c.388A>T (p.Thr130Ser) rs1571580453
NM_024009.3(GJB3):c.422T>A (p.Ile141Asn)
NM_024009.3(GJB3):c.439T>C (p.Tyr147His)
NM_024009.3(GJB3):c.462T>C (p.His154=) rs1376800940
NM_024009.3(GJB3):c.476C>T (p.Pro159Leu)
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024009.3(GJB3):c.479G>C (p.Arg160Pro) rs200055020
NM_024009.3(GJB3):c.481C>G (p.Leu161Val)
NM_024009.3(GJB3):c.498C>T (p.Asn166=)
NM_024009.3(GJB3):c.503C>A (p.Ala168Asp) rs779723678
NM_024009.3(GJB3):c.506C>T (p.Pro169Leu)
NM_024009.3(GJB3):c.542C>G (p.Pro181Arg)
NM_024009.3(GJB3):c.551A>G (p.Lys184Arg)
NM_024009.3(GJB3):c.572T>C (p.Met191Thr)
NM_024009.3(GJB3):c.581C>A (p.Ala194Asp)
NM_024009.3(GJB3):c.595A>G (p.Ile199Val)
NM_024009.3(GJB3):c.611G>A (p.Cys204Tyr)
NM_024009.3(GJB3):c.616C>T (p.Leu206Phe) rs769036573
NM_024009.3(GJB3):c.643C>G (p.Leu215Val)
NM_024009.3(GJB3):c.645G>A (p.Leu215=)
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del) rs727503069
NM_024009.3(GJB3):c.670C>G (p.Arg224Gly) rs139005182
NM_024009.3(GJB3):c.670C>T (p.Arg224Ter) rs139005182
NM_024009.3(GJB3):c.671G>A (p.Arg224Gln)
NM_024009.3(GJB3):c.684C>T (p.Ser228=)
NM_024009.3(GJB3):c.689C>T (p.Ser230Leu)
NM_024009.3(GJB3):c.690G>A (p.Ser230=)
NM_024009.3(GJB3):c.702C>T (p.Ser234=)
NM_024009.3(GJB3):c.724CAC[1] (p.His243del) rs1640097653
NM_024009.3(GJB3):c.733C>T (p.Leu245=)
NM_024009.3(GJB3):c.736G>T (p.Val246Leu) rs2148354654
NM_024009.3(GJB3):c.755A>G (p.Asp252Gly)
NM_024009.3(GJB3):c.776A>G (p.Lys259Arg) rs2148354674
NM_024009.3(GJB3):c.777G>A (p.Lys259=)
NM_024009.3(GJB3):c.783G>C (p.Gln261His)
NM_024009.3(GJB3):c.790G>A (p.Ala264Thr)
NM_024009.3(GJB3):c.793C>A (p.Pro265Thr)
NM_024009.3(GJB3):c.811T>C (p.Ter271Arg)

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