ClinVar Miner

List of variants in gene GJB2 reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_004004.6(GJB2):c.-16C>T
NM_004004.6(GJB2):c.-173G>C
NM_004004.6(GJB2):c.-22-6T>C rs141962118
NM_004004.6(GJB2):c.100A>T (p.Met34Leu) rs564084861
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644
NM_004004.6(GJB2):c.14C>T (p.Thr5Met) rs781085903
NM_004004.6(GJB2):c.187G>T (p.Val63Leu) rs370696868
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309
NM_004004.6(GJB2):c.275C>T (p.Ala92Val)
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys) rs528216023
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.401_403del (p.Trp134_Thr135delinsSer) rs1555341910
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360
NM_004004.6(GJB2):c.512C>T (p.Ala171Val) rs1555341850
NM_004004.6(GJB2):c.53C>G (p.Thr18Ser) rs1566529035
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr) rs765172751
NM_004004.6(GJB2):c.628T>C (p.Leu210=) rs1036073348
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324

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