List of variants in gene ABCA4 reported as pathogenic by Institute of Human Genetics, University of Leipzig Medical Center

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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: 13

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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.3113C>T (p.Ala1038Val)	rs61751374	0.00178
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.5461-10T>C	rs1800728	0.00031
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	rs61751408	0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)	rs61751392	0.00017
NM_000350.3(ABCA4):c.768G>T (p.Val256=)	rs62645944	0.00006
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)	rs61750137	0.00001
NM_000350.3(ABCA4):c.4253+5G>A	rs61750138	0.00001
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)	rs63749055
NM_000350.3(ABCA4):c.67-2A>G	rs398123339

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