ClinVar Miner

List of variants studied for Dilated cardiomyopathy 1AA by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys) rs141563497 0.00003
NM_001103.4(ACTN2):c.646A>G (p.Met216Val) rs749019847 0.00002
NM_001103.4(ACTN2):c.1985G>A (p.Arg662Gln) rs764931229 0.00001
NM_001103.4(ACTN2):c.1046A>G (p.Gln349Arg)
NM_001103.4(ACTN2):c.1378C>T (p.Gln460Ter)
NM_001103.4(ACTN2):c.1622A>G (p.Asp541Gly)
NM_001103.4(ACTN2):c.2240C>T (p.Ala747Val) rs1060503686

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