ClinVar Miner

List of variants in gene GJA8 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_005267.5(GJA8):c.741T>G (p.Ile247Met) rs80358202 0.00365
NM_005267.5(GJA8):c.658A>G (p.Asn220Asp) rs138140155 0.00247
NM_005267.5(GJA8):c.385G>A (p.Val129Ile) rs142415337 0.00070
NM_005267.5(GJA8):c.183C>T (p.Cys61=) rs782213276 0.00003
NM_005267.5(GJA8):c.1030C>G (p.Pro344Ala)
NM_005267.5(GJA8):c.116C>A (p.Thr39Lys)
NM_005267.5(GJA8):c.1186C>T (p.Leu396=)
NM_005267.5(GJA8):c.1300T>C (p.Ter434Arg) rs372496314
NM_005267.5(GJA8):c.208T>G (p.Phe70Val)
NM_005267.5(GJA8):c.262C>G (p.Pro88Ala) rs80358200
NM_005267.5(GJA8):c.321A>C (p.Lys107Asn)
NM_005267.5(GJA8):c.678C>A (p.His226Gln) rs201476382
NM_005267.5(GJA8):c.698G>A (p.Arg233Gln)
NM_005267.5(GJA8):c.829C>T (p.His277Tyr) rs1651940183

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