List of variants in gene ABCA4 reported as pathogenic for Retinitis pigmentosa 19

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)	rs58331765	0.00136
NM_000350.3(ABCA4):c.5714+5G>A	rs61751407	0.00036
NM_000350.3(ABCA4):c.5461-10T>C	rs1800728	0.00031
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)	rs752786160	0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)	rs61751402	0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=)	rs62645944	0.00006
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)	rs61748550	0.00004
NM_000350.3(ABCA4):c.1937+1G>A	rs61752401	0.00003
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	rs61749409	0.00002
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)	rs145961131	0.00002
NM_000350.3(ABCA4):c.1938-1G>A	rs61751263	0.00001
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)	rs61751398	0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)	rs61750146	0.00001
NM_000350.3(ABCA4):c.6386+2C>G	rs61753043	0.00001
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
NM_000350.3(ABCA4):c.1698C>G (p.His566Gln)
NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter)	rs1057517700
NM_000350.3(ABCA4):c.1848del (p.Glu616fs)	rs61751386
NM_000350.3(ABCA4):c.2576_2579dup (p.Phe861fs)	rs2101067575
NM_000350.3(ABCA4):c.3286_3287del (p.Ser1096fs)
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)	rs281865377
NM_000350.3(ABCA4):c.4539+1G>T	rs61751388
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)	rs61751389
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	rs61753046
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)	rs63749055

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