ClinVar Miner

List of variants in gene ABCA1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005502.4(ABCA1):c.3159T>G (p.Val1053=) rs35871586 0.00751
NM_005502.4(ABCA1):c.1530A>G (p.Leu510=) rs34590907 0.00367
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln) rs142688906 0.00227
NM_005502.4(ABCA1):c.5376C>T (p.Thr1792=) rs13306077 0.00198
NM_005502.4(ABCA1):c.1524C>T (p.Asn508=) rs142239617 0.00160
NM_005502.4(ABCA1):c.1977C>T (p.Ile659=) rs34083760 0.00095
NM_005502.4(ABCA1):c.3544G>A (p.Ala1182Thr) rs143180998 0.00061
NM_005502.4(ABCA1):c.99A>G (p.Leu33=) rs141151519 0.00060
NM_005502.4(ABCA1):c.1055-7T>C rs199586194 0.00055
NM_005502.4(ABCA1):c.1377A>C (p.Thr459=) rs186911476 0.00035
NM_005502.4(ABCA1):c.1028C>T (p.Ala343Val) rs200030513 0.00022
NM_005502.4(ABCA1):c.3999G>A (p.Leu1333=) rs183043192 0.00019
NM_005502.4(ABCA1):c.1992G>A (p.Glu664=) rs375938870 0.00011
NM_005502.4(ABCA1):c.1893-4C>G rs376684614 0.00009
NM_005502.4(ABCA1):c.2694C>T (p.Gly898=) rs199596062 0.00001
NM_005502.4(ABCA1):c.1338C>G (p.Asp446Glu) rs148314522
NM_005502.4(ABCA1):c.1881C>G (p.Tyr627Ter) rs376462722
NM_005502.4(ABCA1):c.2820G>T (p.Thr940=)
NM_005502.4(ABCA1):c.4050+7C>T
NM_005502.4(ABCA1):c.4167A>G (p.Thr1389=) rs2118930238
NM_005502.4(ABCA1):c.474G>C (p.Leu158=) rs2230805
NM_005502.4(ABCA1):c.5094C>T (p.Tyr1698=)
NM_005502.4(ABCA1):c.5397C>A (p.Ile1799=)

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