ClinVar Miner

List of variants in gene KCNMA1 reported as pathogenic for not provided

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001161352.2(KCNMA1):c.1301A>G (p.Asp434Gly) rs137853333 0.00001
NM_001161352.2(KCNMA1):c.1123G>A (p.Gly375Arg) rs1554829003
NM_001161352.2(KCNMA1):c.1A>C (p.Met1Leu)
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser) rs886039469
NM_001161352.2(KCNMA1):c.514G>A (p.Ala172Thr) rs2096371289

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