ClinVar Miner

List of variants in gene GJB2 reported as uncertain significance for Hystrix-like ichthyosis with deafness

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Total variants: 28
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HGVS dbSNP
NM_004004.6(GJB2):c.*1040A>G
NM_004004.6(GJB2):c.*114T>C rs182085649
NM_004004.6(GJB2):c.*115A>C
NM_004004.6(GJB2):c.*1206T>G rs886050026
NM_004004.6(GJB2):c.*1291_*1294del rs886050025
NM_004004.6(GJB2):c.*236A>T
NM_004004.6(GJB2):c.*308G>A
NM_004004.6(GJB2):c.*385G>C
NM_004004.6(GJB2):c.*412A>C rs547859391
NM_004004.6(GJB2):c.*423C>T rs112457424
NM_004004.6(GJB2):c.*482A>G rs886050028
NM_004004.6(GJB2):c.*52C>T
NM_004004.6(GJB2):c.*544T>C rs564755659
NM_004004.6(GJB2):c.*550A>G
NM_004004.6(GJB2):c.*598C>A rs550600399
NM_004004.6(GJB2):c.*679T>C
NM_004004.6(GJB2):c.*800A>G rs886050027
NM_004004.6(GJB2):c.*979A>G rs546826225
NM_004004.6(GJB2):c.-170C>G
NM_004004.6(GJB2):c.-1G>A
NM_004004.6(GJB2):c.-45C>A rs397516868
NM_004004.6(GJB2):c.174A>G (p.Pro58=)
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn)
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.287C>G (p.Ala96Gly)
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.6(GJB2):c.557C>T (p.Thr186Met)
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224

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