ClinVar Miner

List of variants in gene GJB2 reported by INGEBI, INGEBI / CONICET

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Gene type:
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Total variants: 46
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HGVS dbSNP
NM_004004.6(GJB2):c.*1C>T rs111033327
NM_004004.6(GJB2):c.-15C>T rs72561725
NM_004004.6(GJB2):c.-22-12C>T rs9578260
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397
NM_004004.6(GJB2):c.232G>T (p.Ala78Ser)
NM_004004.6(GJB2):c.232dup (p.Ala78fs) rs1555341960
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747
NM_004004.6(GJB2):c.246C>G (p.Ile82Met) rs781534323
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.6(GJB2):c.24G>A (p.Thr8=) rs533231493
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.6(GJB2):c.29T>C (p.Leu10Pro)
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.326G>T (p.Gly109Val)
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.355_357GAG[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.380G>A (p.Arg127His) rs111033196
NM_004004.6(GJB2):c.384C>T (p.Ile128=) rs111033298
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.6(GJB2):c.487A>C (p.Met163Leu) rs80338949
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.6(GJB2):c.569T>A (p.Val190Asp)
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr) rs1057517519
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294
NM_004004.6(GJB2):c.632G>A (p.Cys211Tyr)
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084

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