ClinVar Miner

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

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Total variants: 33
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HGVS dbSNP
NM_001089.3(ABCA3):c.-9A>G rs78286222
NM_001089.3(ABCA3):c.1059C>T (p.Phe353=) rs13332514
NM_001089.3(ABCA3):c.128G>A (p.Arg43His) rs754714105
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.1609_1611+4delinsCCA rs876657633
NM_001089.3(ABCA3):c.1755C>G (p.Pro585=) rs323043
NM_001089.3(ABCA3):c.2053-1G>C rs1596842934
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.2199C>T (p.Ile733=) rs138901284
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239
NM_001089.3(ABCA3):c.2514-8C>T rs45502600
NM_001089.3(ABCA3):c.2898C>T (p.Thr966=) rs374605569
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) rs145087575
NM_001089.3(ABCA3):c.371A>G (p.Asn124Ser) rs142977595
NM_001089.3(ABCA3):c.4116T>C (p.Ser1372=) rs149532
NM_001089.3(ABCA3):c.4165-8G>A rs138769732
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251
NM_001089.3(ABCA3):c.447+11C>T rs117031141
NM_001089.3(ABCA3):c.448-14C>G rs62040683
NM_001089.3(ABCA3):c.450G>A (p.Val150=) rs74002800
NM_001089.3(ABCA3):c.4617C>T (p.Asp1539=) rs369494610
NM_001089.3(ABCA3):c.4668C>T (p.Thr1556=) rs727502872
NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys) rs139954112
NM_001089.3(ABCA3):c.634C>A (p.Leu212Met) rs139695699
NM_001089.3(ABCA3):c.681C>T (p.Ala227=) rs45480502
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.863G>A (p.Arg288Lys) rs117603931
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682
NM_001089.3(ABCA3):c.977T>C (p.Leu326Pro) rs121909185
NM_001089.3(ABCA3):c.990+14C>T rs185179294

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