ClinVar Miner

List of variants in gene ABCA4 reported as likely pathogenic by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg) rs61748552 0.00001
NM_000350.3(ABCA4):c.1873C>T (p.Gln625Ter) rs878853396
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.2713del (p.Glu905fs) rs869312184
NM_000350.3(ABCA4):c.3098del (p.Lys1033fs) rs878853397
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377

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