ClinVar Miner

List of variants in gene ABCA1 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_005502.4(ABCA1):c.2543-3C>T rs139457469 0.00159
NM_005502.4(ABCA1):c.5636+18A>C rs111671370 0.00056
NM_005502.4(ABCA1):c.2115+17C>T rs371944946 0.00054
NM_005502.4(ABCA1):c.5690G>A (p.Arg1897Gln) rs564049659 0.00007
NM_005502.4(ABCA1):c.3902-19C>T rs868826271 0.00005
NM_005502.4(ABCA1):c.5757+12C>T rs769533549 0.00005
NM_005502.4(ABCA1):c.302+17G>T rs367919230 0.00003
NM_005502.4(ABCA1):c.725C>G (p.Thr242Arg) rs775987152 0.00003
NM_005502.4(ABCA1):c.1912C>T (p.Arg638Trp) rs199571829 0.00002
NM_005502.4(ABCA1):c.4050+8G>A rs371581830 0.00002
NM_005502.4(ABCA1):c.2375A>G (p.Glu792Gly) rs762990532 0.00001
NM_005502.4(ABCA1):c.5192C>G (p.Ser1731Cys) rs760507032 0.00001
NM_005502.4(ABCA1):c.5621T>G (p.Phe1874Cys) rs754410874 0.00001
NM_005502.4(ABCA1):c.689G>A (p.Arg230His) rs767710036 0.00001
NM_005502.4(ABCA1):c.1040A>G (p.Tyr347Cys)
NM_005502.4(ABCA1):c.1312-16C>T
NM_005502.4(ABCA1):c.1371T>A (p.Asp457Glu)
NM_005502.4(ABCA1):c.1945A>T (p.Ile649Phe)
NM_005502.4(ABCA1):c.2051G>A (p.Ser684Asn)
NM_005502.4(ABCA1):c.2068C>G (p.Leu690Val)
NM_005502.4(ABCA1):c.3104-5dup rs746119307
NM_005502.4(ABCA1):c.3241+5C>T
NM_005502.4(ABCA1):c.3536-6C>T
NM_005502.4(ABCA1):c.357C>A (p.Asp119Glu) rs763744498
NM_005502.4(ABCA1):c.3907A>G (p.Arg1303Gly)
NM_005502.4(ABCA1):c.4295G>A (p.Gly1432Glu)
NM_005502.4(ABCA1):c.4464+12T>C
NM_005502.4(ABCA1):c.4559+12C>T
NM_005502.4(ABCA1):c.4640C>T (p.Pro1547Leu)
NM_005502.4(ABCA1):c.4808G>C (p.Ser1603Thr) rs1030058509
NM_005502.4(ABCA1):c.5121+14C>T
NM_005502.4(ABCA1):c.5146C>G (p.Leu1716Val) rs1829900481
NM_005502.4(ABCA1):c.5374A>G (p.Thr1792Ala) rs1176498235
NM_005502.4(ABCA1):c.5782G>T (p.Ala1928Ser)
NM_005502.4(ABCA1):c.721-10del
NM_005502.4(ABCA1):c.886T>A (p.Ser296Thr)
NM_005502.4(ABCA1):c.934C>T (p.Pro312Ser) rs1183201615

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