ClinVar Miner

List of variants in gene ACTN2 reported as likely benign for Cardiomyopathy

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Total variants: 12
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HGVS dbSNP
NM_001103.3(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154
NM_001103.3(ACTN2):c.165C>T (p.Ala55=) rs193922634
NM_001103.3(ACTN2):c.1975-6C>G rs201255023
NM_001103.3(ACTN2):c.2127C>T (p.Asp709=) rs556612523
NM_001103.3(ACTN2):c.2148G>A (p.Thr716=) rs191631773
NM_001103.3(ACTN2):c.2367+8A>G rs112714025
NM_001103.3(ACTN2):c.2445C>T (p.Ile815=) rs397516575
NM_001103.3(ACTN2):c.2577C>T (p.Ala859=) rs193922636
NM_001103.3(ACTN2):c.2643C>T (p.Tyr881=) rs727505177
NM_001103.3(ACTN2):c.441G>A (p.Ser147=) rs150182164
NM_001103.3(ACTN2):c.546T>C (p.Asp182=) rs34263845
NM_001103.3(ACTN2):c.918C>T (p.Asn306=) rs148646265

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