List of variants in gene ABCA4 reported by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter)	rs886039882
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter)	rs1553193813
NM_000350.3(ABCA4):c.1676G>A (p.Trp559Ter)	rs1570393848
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)	rs141823837
NM_000350.3(ABCA4):c.3062del (p.Ala1021fs)	rs1570373408
NM_000350.3(ABCA4):c.3093del (p.Gly1032fs)	rs886044735
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter)	rs1553188916
NM_000350.3(ABCA4):c.488_491del (p.Leu163fs)	rs747950242
NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys)	rs748706582
NM_000350.3(ABCA4):c.5899-1G>T	rs1553187160
NM_000350.3(ABCA4):c.6113G>C (p.Arg2038Pro)	rs767729255
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln)	rs951379922
NM_000350.3(ABCA4):c.716G>A (p.Trp239Ter)	rs755733328

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