ClinVar Miner

List of variants in gene ABCA3 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001089.3(ABCA3):c.4116T>C (p.Ser1372=) rs149532 0.87571
NM_001089.3(ABCA3):c.1755C>G (p.Pro585=) rs323043 0.14339
NM_001089.3(ABCA3):c.1059C>T (p.Phe353=) rs13332514 0.11601
NM_001089.3(ABCA3):c.450G>A (p.Val150=) rs74002800 0.03711
NM_001089.3(ABCA3):c.2514-8C>T rs45502600 0.02214
NM_001089.3(ABCA3):c.447+11C>T rs117031141 0.01978
NM_001089.3(ABCA3):c.681C>T (p.Ala227=) rs45480502 0.01639
NM_001089.3(ABCA3):c.448-14C>G rs62040683 0.01376
NM_001089.3(ABCA3):c.-9A>G rs78286222 0.01064
NM_001089.3(ABCA3):c.990+14C>T rs185179294 0.00913
NM_001089.3(ABCA3):c.4165-8G>A rs138769732 0.00766
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931 0.00662
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251 0.00308
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_001089.3(ABCA3):c.5101G>A (p.Glu1701Lys) rs139954112 0.00217
NM_001089.3(ABCA3):c.2125C>T (p.Arg709Trp) rs148671332 0.00172
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239 0.00170
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) rs143008553 0.00141
NM_001089.3(ABCA3):c.371A>G (p.Asn124Ser) rs142977595 0.00084
NM_001089.3(ABCA3):c.634C>A (p.Leu212Met) rs139695699 0.00077
NM_001089.3(ABCA3):c.1549G>A (p.Glu517Lys) rs201157181 0.00039
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) rs145087575 0.00029
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001089.3(ABCA3):c.2898C>T (p.Thr966=) rs374605569 0.00009
NM_001089.3(ABCA3):c.4617C>T (p.Asp1539=) rs369494610 0.00009
NM_001089.3(ABCA3):c.4668C>T (p.Thr1556=) rs727502872 0.00004
NM_001089.3(ABCA3):c.2140C>T (p.Arg714Cys) rs867072001 0.00003
NM_001089.3(ABCA3):c.128G>A (p.Arg43His) rs754714105 0.00002
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.1609_1611+4delinsCCA rs876657633
NM_001089.3(ABCA3):c.2053-1G>C rs1596842934
NM_001089.3(ABCA3):c.2199C>T (p.Ile733=) rs138901284
NM_001089.3(ABCA3):c.977T>C (p.Leu326Pro) rs121909185

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