List of variants in gene ABCA4 reported by Department of Ophthalmology and Visual Sciences Kyoto University

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg)	rs3112831	0.25928
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)	rs6666652	0.17582
NM_000350.3(ABCA4):c.6282+7G>A	rs17110761	0.13306
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met)	rs1800549	0.00160
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)	rs148460146	0.00024
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)	rs201117452	0.00005
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met)	rs74516571	0.00004
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys)	rs62642573	0.00003
NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys)	rs62645952	0.00002
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)	rs61750654	0.00001
NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe)	rs150774447
NM_000350.3(ABCA4):c.1760+2T>G	rs61751385
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)	rs62654395
NM_000350.3(ABCA4):c.2798A>T (p.Asn933Ile)	rs527236129

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