List of variants in gene ABCA4 reported as likely pathogenic by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)	rs61754030	0.00174
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)	rs1800552	0.00153
NM_000350.3(ABCA4):c.5714+5G>A	rs61751407	0.00036
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	rs61750130	0.00023
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	rs61751392	0.00017
NM_000350.3(ABCA4):c.5196+1137G>A	rs778234759	0.00013
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu)	rs61750202	0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=)	rs62645944	0.00006
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)	rs61749412	0.00004
NM_000350.3(ABCA4):c.885del (p.Leu296fs)	rs764759172	0.00002
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)	rs61751412	0.00001
NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys)	rs762150575	0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)	rs61753038	0.00001
NM_000350.3(ABCA4):c.1529T>G (p.Leu510Arg)	rs886039299
NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile)	rs886044728
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val)	rs779466403
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter)	rs1570382663
NM_000350.3(ABCA4):c.2680dup (p.Leu894fs)	rs1570380080
NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys)	rs1570377861
NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu)	rs1570370929
NM_000350.3(ABCA4):c.4222del (p.Trp1408fs)	rs1571264574
NM_000350.3(ABCA4):c.4243A>C (p.Thr1415Pro)	rs1571264551
NM_000350.3(ABCA4):c.5528_5533del (p.Arg1843_Gly1844del)	rs1571250020
NM_000350.3(ABCA4):c.5584+6T>C	rs61750633
NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg)	rs1553186896
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)	rs61750645
NM_000350.3(ABCA4):c.6386+1G>A	rs745654673
NM_000350.3(ABCA4):c.6454G>T (p.Gly2152Cys)	rs1571241947
NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu)	rs1571241930

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