ClinVar Miner

List of variants in gene ACTN2 reported as uncertain significance for Primary familial hypertrophic cardiomyopathy

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Total variants: 11
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HGVS dbSNP
NM_001103.3(ACTN2):c.1070G>A (p.Arg357His) rs730880041
NM_001103.3(ACTN2):c.1307A>C (p.Glu436Ala) rs199955427
NM_001103.3(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.3(ACTN2):c.1447T>A (p.Cys483Ser) rs1553303424
NM_001103.3(ACTN2):c.1775G>T (p.Arg592Ile) rs774780856
NM_001103.3(ACTN2):c.1906G>A (p.Glu636Lys) rs780431842
NM_001103.3(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001103.3(ACTN2):c.2231C>T (p.Thr744Met) rs765747662
NM_001103.3(ACTN2):c.2387G>T (p.Arg796Leu) rs772409484
NM_001103.3(ACTN2):c.278G>A (p.Arg93Gln) rs777124854

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