List of variants in gene ABCA4 reported as uncertain significance for cone-rod dystrophy

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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: 34

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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.6148G>C (p.Val2050Leu)	rs41292677	0.00308
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.1928T>G (p.Val643Gly)	rs61754024	0.00178
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)	rs61753019	0.00076
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)	rs61748549	0.00066
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg)	rs144995371	0.00034
NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys)	rs150895509	0.00034
NM_000350.3(ABCA4):c.3076T>C (p.Phe1026Leu)	rs369703217	0.00028
NM_000350.3(ABCA4):c.6560A>G (p.Gln2187Arg)	rs1339233014	0.00014
NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg)	rs140281495	0.00006
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn)	rs145265791	0.00005
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)	rs142732109	0.00005
NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln)	rs759799179	0.00004
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu)	rs374687000	0.00004
NM_000350.3(ABCA4):c.766G>T (p.Val256Leu)	rs374851665	0.00004
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)	rs138359497	0.00003
NM_000350.3(ABCA4):c.303-3C>T	rs777945195	0.00002
NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val)	rs886044763	0.00002
NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu)	rs886044724	0.00001
NM_000350.3(ABCA4):c.3996G>T (p.Gln1332His)	rs765176802	0.00001
NM_000350.3(ABCA4):c.5209G>A (p.Val1737Met)	rs761017794	0.00001
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val)	rs1188515677	0.00001
NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter)	rs372234578	0.00001
NM_000350.3(ABCA4):c.1792G>A (p.Val598Met)	rs201838557
NM_000350.3(ABCA4):c.2828G>T (p.Arg943Leu)	rs1801581
NM_000350.3(ABCA4):c.302+4A>G
NM_000350.3(ABCA4):c.4340A>T (p.Glu1447Val)	rs2101034896
NM_000350.3(ABCA4):c.5486T>C (p.Leu1829Pro)
NM_000350.3(ABCA4):c.5530G>T (p.Gly1844Cys)	rs2101008373
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)	rs367839100
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro)	rs2100993895
NM_000350.3(ABCA4):c.6820T>A (p.Ter2274Arg)	rs1658918432

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