ClinVar Miner

List of variants reported as likely benign for Dilated cardiomyopathy 1AA; Myopathy, congenital, with structured cores and z-line abnormalities; Myopathy, distal, 6, adult-onset, autosomal dominant by Fulgent Genetics, Fulgent Genetics

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412 0.00230
NM_001103.4(ACTN2):c.1515+15C>T rs368107695 0.00147
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001103.4(ACTN2):c.877-6G>A rs397516585 0.00068
NM_001103.4(ACTN2):c.537-14C>T rs577211083 0.00005
NM_001103.4(ACTN2):c.2376C>T (p.Ala792=) rs369320952 0.00004
NM_001103.4(ACTN2):c.2676C>T (p.Ser892=) rs397516578 0.00003
NM_001103.4(ACTN2):c.1305A>G (p.Thr435=) rs12043223 0.00001
NM_001103.4(ACTN2):c.1857C>A (p.Pro619=) rs1659474774 0.00001
NM_001103.4(ACTN2):c.2475C>T (p.Thr825=) rs758805815 0.00001
NM_001103.4(ACTN2):c.1794G>C (p.Pro598=) rs137890030

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