ClinVar Miner

List of variants studied for ABCA4-related retinopathy by Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00032
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000539.3(RHO):c.361G>A (p.Gly121Ser) rs771637224 0.00003
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377

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