ClinVar Miner

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

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Total variants: 13
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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.4420C>T (p.Arg1474Trp) rs146709251 0.00308
NM_001089.3(ABCA3):c.634C>A (p.Leu212Met) rs139695699 0.00077

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