ClinVar Miner

List of variants in gene GJA1 reported as benign for ectodermal dysplasia syndrome

Included ClinVar conditions (216):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000165.5(GJA1):c.*1322A>T rs12212865 0.08165
NM_000165.5(GJA1):c.*968T>C rs111878880 0.06674
NM_000165.5(GJA1):c.*3dup rs397824185 0.05665
NM_000165.5(GJA1):c.*173G>A rs72548744 0.03954
NM_000165.5(GJA1):c.758C>T (p.Ala253Val) rs17653265 0.00930
NM_000165.5(GJA1):c.*243A>G rs139128953 0.00907
NM_000165.5(GJA1):c.-67C>G rs111581053 0.00310
NC_000006.12:g.121449729C>T rs78394273 0.00282
NM_000165.5(GJA1):c.837G>A (p.Ser279=) rs67407537 0.00086
NM_000165.5(GJA1):c.*119T>C rs72548742 0.00071
NM_000165.5(GJA1):c.1128G>A (p.Arg376=) rs145215218 0.00051
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) rs104893965 0.00019
NM_000165.5(GJA1):c.309A>G (p.Glu103=) rs544249730 0.00017
NM_000165.5(GJA1):c.456G>A (p.Leu152=) rs72548741 0.00011
NM_000165.5(GJA1):c.612G>A (p.Thr204=) rs766082259 0.00009
NM_000165.5(GJA1):c.-135C>T rs539558089 0.00007
NM_000165.5(GJA1):c.764G>A (p.Ser255Asn) rs765459582 0.00004
NM_000165.5(GJA1):c.814T>C (p.Ser272Pro) rs376074787 0.00001
NM_000165.5(GJA1):c.*773dup rs397698276
NM_000165.5(GJA1):c.-16-12T>A rs56199702
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_000165.5(GJA1):c.717G>C (p.Arg239=) rs57946868

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