List of variants in gene ABCA4 reported as likely pathogenic 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: 30

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)	rs121909207	0.00014
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)	rs756840095	0.00006
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)	rs150774447	0.00004
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)	rs55732384	0.00002
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)	rs575453437	0.00001
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr)	rs374410829	0.00001
NM_000350.3(ABCA4):c.2870A>G (p.Gln957Arg)	rs61749448	0.00001
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)	rs768278935	0.00001
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile)	rs1208195953	0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)	rs61748538	0.00001
GRCh37/hg19 1p22.1(chr1:94528133-94528873)x1
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His)	rs61748548
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs)	rs63749083
NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter)	rs886039882
NM_000350.3(ABCA4):c.1570A>G (p.Lys524Glu)	rs1570394071
NM_000350.3(ABCA4):c.1757A>G (p.Asp586Gly)	rs1553192682
NM_000350.3(ABCA4):c.2184C>A (p.Ser728Arg)	rs776910485
NM_000350.3(ABCA4):c.2390T>C (p.Leu797Pro)	rs61749432
NM_000350.3(ABCA4):c.2861A>C (p.Tyr954Ser)	rs1660701838
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser)	rs368846708
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile)	rs61752411
NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His)	rs1801269
NM_000350.3(ABCA4):c.4128G>C (p.Gln1376His)	rs1064797113
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp)	rs62642576
NM_000350.3(ABCA4):c.5573A>G (p.Tyr1858Cys)
NM_000350.3(ABCA4):c.5753A>T (p.Asp1918Val)	rs1659470705
NM_000350.3(ABCA4):c.6119G>C (p.Arg2040Pro)	rs148460146
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln)	rs951379922
NM_000350.3(ABCA4):c.6419T>G (p.Leu2140Arg)	rs774475956
NM_000350.3(ABCA4):c.6816+2T>A	rs112005636

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