ClinVar Miner

List of variants in gene ACTN2 reported as benign by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 22
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HGVS dbSNP
NM_001103.3(ACTN2):c.1296G>A (p.Ala432=) rs35956798
NM_001103.3(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154
NM_001103.3(ACTN2):c.1341C>T (p.Phe447=) rs34785693
NM_001103.3(ACTN2):c.1371C>T (p.Arg457=) rs114008185
NM_001103.3(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412
NM_001103.3(ACTN2):c.1515+15C>T rs368107695
NM_001103.3(ACTN2):c.1810A>G (p.Met604Val) rs35997569
NM_001103.3(ACTN2):c.1932C>A (p.Ala644=) rs144680712
NM_001103.3(ACTN2):c.2076C>T (p.Ile692=) rs144122893
NM_001103.3(ACTN2):c.2139G>A (p.Thr713=) rs34975493
NM_001103.3(ACTN2):c.2610G>A (p.Ser870=) rs12063382
NM_001103.3(ACTN2):c.351= (p.Ile117=) rs1341864
NM_001103.3(ACTN2):c.351C>T (p.Ile117=) rs1341864
NM_001103.3(ACTN2):c.378= (p.Asn126=) rs1341863
NM_001103.3(ACTN2):c.378T>C (p.Asn126=) rs1341863
NM_001103.3(ACTN2):c.536+10C>T rs141219516
NM_001103.3(ACTN2):c.705G>C (p.Val235=) rs2288599
NM_001103.3(ACTN2):c.783+22G>A rs2288600
NM_001103.3(ACTN2):c.870G>A (p.Ala290=) rs116464082
NM_001103.3(ACTN2):c.877-6G>A rs397516585
NM_001103.3(ACTN2):c.877-8= rs2288601
NM_001103.3(ACTN2):c.877-8C>G rs2288601

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