ClinVar Miner

List of variants reported as benign for Hidrotic ectodermal dysplasia syndrome

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001110219.3(GJB6):c.*337G>T rs7333214 0.23835
NM_001110219.3(GJB6):c.*301G>C rs112723181 0.02132
NM_001110219.3(GJB6):c.-105T>A rs114639494 0.01720
NM_001110219.3(GJB6):c.-295-219G>A rs7333727 0.01403
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) rs35277762 0.00237
NM_001110219.3(GJB6):c.358G>A (p.Asp120Asn) rs193292569 0.00120
NM_001110219.3(GJB6):c.607A>G (p.Met203Val) rs200674715 0.00086
NM_001110219.3(GJB6):c.480G>A (p.Gly160=) rs145762940 0.00021
NM_001110219.3(GJB6):c.396G>A (p.Leu132=) rs189971962 0.00004
NM_001110219.3(GJB6):c.-35T>A rs534287605 0.00001

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