ClinVar Miner

List of variants in gene ACTN2 reported by Biesecker Lab/Human Development Section,National Institutes of Health

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Gene type:
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Total variants: 19
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HGVS dbSNP
NM_001103.3(ACTN2):c.1040C>T (p.Thr347Met) rs727504590
NM_001103.3(ACTN2):c.1235C>T (p.Thr412Met) rs139515659
NM_001103.3(ACTN2):c.1312C>T (p.Arg438Trp) rs563171274
NM_001103.3(ACTN2):c.1358C>T (p.Ala453Val) rs566860712
NM_001103.3(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412
NM_001103.3(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.3(ACTN2):c.1444C>T (p.Arg482Trp) rs199604590
NM_001103.3(ACTN2):c.1484C>T (p.Thr495Met) rs200248944
NM_001103.3(ACTN2):c.1532T>C (p.Leu511Pro) rs786205346
NM_001103.3(ACTN2):c.1586A>G (p.Asn529Ser) rs200143657
NM_001103.3(ACTN2):c.1594A>T (p.Met532Leu) rs200969588
NM_001103.3(ACTN2):c.1810A>G (p.Met604Val) rs35997569
NM_001103.3(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837
NM_001103.3(ACTN2):c.2419G>C (p.Gly807Arg) rs200282066
NM_001103.3(ACTN2):c.2497G>A (p.Ala833Thr) rs200854335
NM_001103.3(ACTN2):c.2552G>A (p.Arg851His) rs201335965
NM_001103.3(ACTN2):c.2659G>A (p.Ala887Thr) rs148972050
NM_001103.3(ACTN2):c.26A>G (p.Gln9Arg) rs121434525
NM_001103.3(ACTN2):c.575G>A (p.Arg192Gln) rs200316891

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