List of variants in gene ABCA4 reported as likely benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 50

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.1761-50G>A	rs61754022	0.01220
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn)	rs1800555	0.01028
NM_000350.3(ABCA4):c.6729+21C>T	rs1800699	0.00981
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)	rs62646862	0.00276
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)	rs62646863	0.00222
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)	rs138682163	0.00183
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)	rs61754030	0.00174
NM_000350.3(ABCA4):c.2654-36C>T	rs145368920	0.00139
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)	rs145483148	0.00120
NM_000350.3(ABCA4):c.3297A>C (p.Ser1099=)	rs148917659	0.00073
NM_000350.3(ABCA4):c.981C>T (p.Pro327=)	rs61753057	0.00054
NM_000350.3(ABCA4):c.6730-19G>A	rs375179475	0.00052
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)	rs140482171	0.00037
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)	rs143263315	0.00037
NM_000350.3(ABCA4):c.4401C>T (p.Ser1467=)	rs188775667	0.00034
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=)	rs376624031	0.00022
NM_000350.3(ABCA4):c.4284G>A (p.Thr1428=)	rs146715683	0.00019
NM_000350.3(ABCA4):c.6333C>T (p.Asn2111=)	rs371572812	0.00019
NM_000350.3(ABCA4):c.2127G>A (p.Ser709=)	rs61754025	0.00016
NM_000350.3(ABCA4):c.3213G>A (p.Ser1071=)	rs141233353	0.00016
NM_000350.3(ABCA4):c.5312+8G>A	rs187953772	0.00016
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)	rs201602424	0.00014
NM_000350.3(ABCA4):c.4026G>A (p.Pro1342=)	rs769291698	0.00012
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=)	rs570745701	0.00010
NM_000350.3(ABCA4):c.1251T>C (p.Thr417=)	rs374336459	0.00005
NM_000350.3(ABCA4):c.3210G>A (p.Leu1070=)	rs113398504	0.00004
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=)	rs202199507	0.00004
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=)	rs191506332	0.00004
NM_000350.3(ABCA4):c.1937+15C>T	rs774567553	0.00003
NM_000350.3(ABCA4):c.1962T>C (p.Cys654=)	rs976467572	0.00002
NM_000350.3(ABCA4):c.3603G>A (p.Leu1201=)	rs368951547	0.00002
NM_000350.3(ABCA4):c.3867C>T (p.Gly1289=)	rs573418899	0.00002
NM_000350.3(ABCA4):c.2884C>T (p.Leu962=)	rs774598114	0.00001
NM_000350.3(ABCA4):c.4536C>T (p.Pro1512=)	rs764982444	0.00001
NM_000350.3(ABCA4):c.769-3C>T	rs368010652	0.00001
NM_000350.3(ABCA4):c.1937+425C>T
NM_000350.3(ABCA4):c.2418T>C (p.Thr806=)
NM_000350.3(ABCA4):c.2865G>A (p.Glu955=)
NM_000350.3(ABCA4):c.2982T>C (p.Ile994=)	rs1660622253
NM_000350.3(ABCA4):c.3050+362_3050+370del	rs1056176825
NM_000350.3(ABCA4):c.3582C>A (p.Asp1194Glu)	rs886038285
NM_000350.3(ABCA4):c.3863-8C>T
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=)	rs1801666
NM_000350.3(ABCA4):c.5640T>A (p.Phe1880Leu)	rs374811709
NM_000350.3(ABCA4):c.570+7G>T	rs367976871
NM_000350.3(ABCA4):c.6147+9T>A	rs778917656
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=)	rs61751379
NM_000350.3(ABCA4):c.6693C>T (p.Ile2231=)	rs1801626
NM_000350.3(ABCA4):c.6721C>T (p.Leu2241=)
NM_000350.3(ABCA4):c.859-9T>C	rs529598960

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