ClinVar Miner

List of variants in gene ACTN2 reported as likely benign by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_001103.4(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154 0.00068
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu) rs149846886 0.00009
NM_001103.4(ACTN2):c.784-525G>A rs1040815384 0.00002
NM_001103.4(ACTN2):c.1089C>T (p.Ser363=) rs397516562 0.00001
NM_001103.4(ACTN2):c.1359G>A (p.Ala453=) rs780174131 0.00001
NM_001103.4(ACTN2):c.1794G>C (p.Pro598=) rs137890030

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