ClinVar Miner

List of variants reported by INGEBI, INGEBI / CONICET

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ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.-22-12C>T rs9578260 0.07478
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362 0.00066
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
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.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493 0.00007
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly) rs200655479 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_022124.6(CDH23):c.1515-12G>A rs369396703 0.00002
NM_001256317.3(TMPRSS3):c.242C>G (p.Ser81Ter) rs757110501 0.00001
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593 0.00001
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004004.6(GJB2):c.632G>A (p.Cys211Tyr) rs1268045311 0.00001
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met) rs398123036 0.00001
NM_032119.4(ADGRV1):c.12829C>T (p.Arg4277Ter) rs1758506826 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.1841-2A>G rs397518003 0.00001
NM_000091.5(COL4A3):c.3500G>A (p.Gly1167Glu) rs2106236091
NM_000260.4(MYO7A):c.1344-2A>G rs111033415
NM_000260.4(MYO7A):c.733C>T (p.Gln245Ter) rs1555063281
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter) rs1464157509
NM_001614.5(ACTG1):c.353A>T (p.Lys118Met) rs104894544
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.232G>T (p.Ala78Ser) rs1959060696
NM_004004.6(GJB2):c.232dup (p.Ala78fs) rs1555341960
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.29T>C (p.Leu10Pro) rs1959063711
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.326G>T (p.Gly109Val) rs374572413
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.382A>G (p.Ile128Val) rs1959058329
NM_004004.6(GJB2):c.384C>T (p.Ile128=) rs111033298
NM_004004.6(GJB2):c.487A>C (p.Met163Leu) rs80338949
NM_004004.6(GJB2):c.569T>A (p.Val190Asp) rs1959056079
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004100.5(EYA4):c.580+2T>C rs2128658900
NM_004403.3(GSDME):c.119dup (p.Lys41fs) rs758488919
NM_004999.4(MYO6):c.1939T>C (p.Phe647Leu) rs752585373
NM_004999.4(MYO6):c.2775G>C (p.Arg925Ser)
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys) rs121909063
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_015340.4(LARS2):c.1481dup (p.Leu495fs) rs762797278
NM_022124.5(CDH23):c.337del rs2132200416
NM_022124.6(CDH23):c.3353del (p.Gly1118fs) rs2132760607
NM_032119.4(ADGRV1):c.956dup (p.Asn319fs) rs752179149
NM_033380.3(COL4A5):c.1183C>T (p.Pro395Ser) rs2147796628
NM_033380.3(COL4A5):c.1759C>T (p.Pro587Ser) rs2147810509
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp) rs104886251
NM_153700.2(STRC):c.1030C>T (p.Arg344Ter)
Single allele

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