ClinVar Miner

List of variants studied for RDH5-related retinopathy by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys) rs137853291 0.00003
NM_000326.5(RLBP1):c.141G>A (p.Lys47=) rs766278489 0.00001
NM_000326.5(RLBP1):c.452G>A (p.Arg151Gln) rs137853290 0.00001
NM_000326.5(RLBP1):c.700C>T (p.Arg234Trp) rs28933990
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775

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