ClinVar Miner

List of variants in gene ABCA3 reported as uncertain significance by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 8
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NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.1549G>A (p.Glu517Lys) rs201157181
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) rs148671332
NM_001089.3(ABCA3):c.2140C>T (p.Arg714Cys) rs867072001
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) rs143008553
NM_001089.3(ABCA3):c.977T>C (p.Leu326Pro) rs121909185

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