ClinVar Miner

List of variants in gene ABCA1 reported by OMIM

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_005502.4(ABCA1):c.656G>A (p.Arg219Lys) rs2230806 0.38693
NM_005502.4(ABCA1):c.161-806C>T rs3890182 0.11691
NM_005502.4(ABCA1):c.3865G>A (p.Asp1289Asn) rs137854500 0.00002
NM_005502.4(ABCA1):c.1790A>G (p.Gln597Arg) rs2853578 0.00001
NM_005502.4(ABCA1):c.2804A>G (p.Asn935Ser) rs28937313 0.00001
NM_005502.4(ABCA1):c.2810C>T (p.Ala937Val) rs137854495 0.00001
NM_005502.4(ABCA1):c.4429T>C (p.Cys1477Arg) rs137854494 0.00001
NG_007981.1:g.[101177_102434delins36;107248_127198delins21]
NM_005502.4(ABCA1):c.1584_1597delinsCGGGCGTGGTGGCAGGAGCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCACTTGAACTCAGGAGGCAGAGGTTGCAGTGAGCTGAGGTCACGCCACTGTAC (p.Glu529_Trp533delinsGlyArgGlyGlyArgSerCysAsnProSerTyrLeuGlyGlyTer) rs796051873
NM_005502.4(ABCA1):c.1719C>A (p.Tyr573Ter) rs137854502
NM_005502.4(ABCA1):c.1769G>C (p.Trp590Ser) rs137854496
NM_005502.4(ABCA1):c.1824del (p.Thr609fs) rs387906413
NM_005502.4(ABCA1):c.2077CTT[1] (p.Leu694del) rs387906412
NM_005502.4(ABCA1):c.2725del (p.Arg909fs) rs1554714092
NM_005502.4(ABCA1):c.2803A>C (p.Asn935His) rs28937314
NM_005502.4(ABCA1):c.3295G>T (p.Asp1099Tyr) rs28933692
NM_005502.4(ABCA1):c.3343_3344del (p.Ser1115fs) rs387906414
NM_005502.4(ABCA1):c.3738+1G>C rs796051872
NM_005502.4(ABCA1):c.3849_3852del (p.Pro1284fs) rs387906415
NM_005502.4(ABCA1):c.4517C>T (p.Ser1506Leu) rs137854497
NM_005502.4(ABCA1):c.5038C>T (p.Arg1680Trp) rs137854498

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