ClinVar Miner

List of variants in gene GJA5 reported as pathogenic for atrial fibrillation (disease)

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
GRCh37/hg19 1q21.2(chr1:147245049-147246661)
NM_005266.6(GJA5):c.145C>T (p.Gln49Ter) rs387906612
NM_005266.6(GJA5):c.223A>T (p.Ile75Phe) rs587777304
NM_005266.6(GJA5):c.253G>A (p.Val85Ile) rs387906613
NM_005266.6(GJA5):c.661C>A (p.Leu221Ile) rs387906614
NM_005266.6(GJA5):c.685C>A (p.Leu229Met) rs387906615
NM_181703.4(GJA5):c.286G>T (p.Ala96Ser) rs121434557

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