ClinVar Miner

List of variants in gene combination ACTC1, LOC101928174 studied for Primary familial hypertrophic cardiomyopathy

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Total variants: 10
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NM_005159.5(ACTC1):c.1124A>G (p.Lys375Arg) rs869025355
NM_005159.5(ACTC1):c.129+18dup rs148433308
NM_005159.5(ACTC1):c.129+19_129+20insT rs386134228
NM_005159.5(ACTC1):c.148G>A (p.Gly50Ser) rs1555418921
NM_005159.5(ACTC1):c.272C>A (p.Thr91Asn) rs730880037
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680
NM_005159.5(ACTC1):c.67T>C (p.Phe23Leu) rs193922681
NM_005159.5(ACTC1):c.687G>A (p.Met229Ile) rs1595760799
NM_005159.5(ACTC1):c.751A>G (p.Thr251Ala) rs730880039
NM_005159.5(ACTC1):c.854T>C (p.Met285Thr) rs869025354

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