ClinVar Miner

List of variants in gene GJB6 reported as benign for Clouston syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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NM_001110219.3(GJB6):c.*301G>C rs112723181
NM_001110219.3(GJB6):c.*337G>T rs7333214
NM_001110219.3(GJB6):c.-105T>A rs114639494
NM_001110219.3(GJB6):c.-295-219G>A rs7333727
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) rs143766955
NM_001110219.3(GJB6):c.358G>A (p.Asp120Asn) rs193292569
NM_001110219.3(GJB6):c.396G>A (p.Leu132=)
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) rs35277762
NM_001110219.3(GJB6):c.480G>A (p.Gly160=)
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338
NM_001110219.3(GJB6):c.607A>G (p.Met203Val) rs200674715

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