List of variants in gene ABCA4 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 49

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)	rs1801466	0.04126
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)	rs61749417	0.00491
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)	rs28938473	0.00362
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)	rs62646862	0.00276
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)	rs56357060	0.00189
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)	rs61754024	0.00178
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	rs1800552	0.00153
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)	rs61750563	0.00088
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)	rs61748549	0.00066
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=)	rs61754033	0.00041
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)	rs140482171	0.00037
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)	rs61748532	0.00033
NM_000350.3(ABCA4):c.5692C>T (p.Arg1898Cys)	rs201357151	0.00029
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=)	rs138831474	0.00021
NM_000350.3(ABCA4):c.573C>T (p.Phe191=)	rs374454045	0.00009
NM_000350.3(ABCA4):c.4253+6C>T	rs372660973	0.00007
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)	rs61748559	0.00005
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)	rs142732109	0.00005
NM_000350.3(ABCA4):c.764G>A (p.Arg255His)	rs148387660	0.00005
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu)	rs374687000	0.00004
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)	rs138359497	0.00003
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)	rs61748521	0.00003
NM_000350.3(ABCA4):c.587C>T (p.Pro196Leu)	rs769176363	0.00002
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr)	rs61748537	0.00002
NM_000350.3(ABCA4):c.88G>A (p.Val30Met)	rs202127496	0.00002
NM_000350.3(ABCA4):c.1082C>A (p.Ser361Tyr)	rs748487419	0.00001
NM_000350.3(ABCA4):c.2236A>G (p.Met746Val)	rs1293462383	0.00001
NM_000350.3(ABCA4):c.4510G>A (p.Glu1504Lys)	rs190370456	0.00001
NM_000350.3(ABCA4):c.463G>A (p.Asp155Asn)	rs1570426424	0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)	rs771038310	0.00001
NM_000350.3(ABCA4):c.1099+3A>C	rs1570407965
NM_000350.3(ABCA4):c.1241C>A (p.Ala414Asp)	rs1553193893
NM_000350.3(ABCA4):c.2036A>T (p.Glu679Val)	rs1553192420
NM_000350.3(ABCA4):c.2096C>A (p.Thr699Asn)	rs1057519142
NM_000350.3(ABCA4):c.2185G>A (p.Asp729Asn)
NM_000350.3(ABCA4):c.2770G>A (p.Gly924Arg)	rs2101057455
NM_000350.3(ABCA4):c.2772G>A (p.Gly924=)	rs371907790
NM_000350.3(ABCA4):c.419G>C (p.Arg140Pro)	rs369105023
NM_000350.3(ABCA4):c.4540-5C>G	rs1476415689
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser)	rs1557770154
NM_000350.3(ABCA4):c.5171G>C (p.Trp1724Ser)	rs1571256634
NM_000350.3(ABCA4):c.5312+5_5312+14del	rs2101015335
NM_000350.3(ABCA4):c.5510C>T (p.Pro1837Leu)	rs1571250077
NM_000350.3(ABCA4):c.5935A>G (p.Thr1979Ala)	rs1571247308
NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser)	rs149780335
NM_000350.3(ABCA4):c.746A>G (p.Asp249Gly)	rs62646865
NM_000350.3(ABCA4):c.769-784C>T
NM_000350.3(ABCA4):c.885C>G (p.Asp295Glu)	rs1553194068
NM_000350.3(ABCA4):c.956T>G (p.Leu319Arg)	rs886044723

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