ClinVar Miner

List of variants in gene BLOC1S1-RDH5, RDH5 studied for RDH5-related retinopathy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_002905.5(RDH5):c.569+47C>A rs3138141 0.15450
NM_002905.5(RDH5):c.423C>T (p.Ile141=) rs3138142 0.15275
NM_002905.5(RDH5):c.-153C>T rs114663094 0.01541
NM_002905.5(RDH5):c.481A>G (p.Ile161Val) rs61733970 0.01087
NM_002905.5(RDH5):c.-32-9C>T rs201563497 0.00496
NM_002905.5(RDH5):c.-120G>A rs7972217 0.00451
NM_002905.5(RDH5):c.265G>A (p.Val89Ile) rs1136125 0.00324
NM_002905.5(RDH5):c.97A>G (p.Ile33Val) rs62638195 0.00261
NM_002905.5(RDH5):c.224G>A (p.Arg75His) rs140121982 0.00096
NM_002905.5(RDH5):c.525C>T (p.Tyr175=) rs139647623 0.00090
NM_002905.5(RDH5):c.311-12A>G rs369461881 0.00011
NM_002905.5(RDH5):c.208C>T (p.Arg70Trp) rs1058635 0.00009
NM_002905.5(RDH5):c.500G>A (p.Arg167His) rs199877211 0.00009
NM_002905.5(RDH5):c.190G>A (p.Gly64Arg) rs753970388 0.00007
NM_002905.5(RDH5):c.103G>A (p.Gly35Ser) rs759359491 0.00004
NM_002905.5(RDH5):c.469C>T (p.Arg157Trp) rs104894374 0.00004
NM_002905.5(RDH5):c.-152G>A rs886049672 0.00003
NM_002905.5(RDH5):c.285G>A (p.Trp95Ter) rs774122562 0.00003
NM_002905.5(RDH5):c.382G>A (p.Asp128Asn) rs377029071 0.00002
NM_002905.5(RDH5):c.537A>G (p.Lys179=) rs769568052 0.00002
NM_002905.5(RDH5):c.-123G>A rs886049673 0.00001
NM_002905.5(RDH5):c.160C>T (p.Arg54Ter) rs769035379 0.00001
NM_002905.5(RDH5):c.394G>A (p.Val132Met) rs62638187 0.00001
NM_002905.5(RDH5):c.489C>T (p.Ser163=) rs754237316 0.00001
NM_002905.5(RDH5):c.-33+2dup rs1565653781
NM_002905.5(RDH5):c.248dup (p.Thr84fs) rs1876913255
NM_002905.5(RDH5):c.412del (p.Met138fs) rs1592521438
NM_002905.5(RDH5):c.417T>A (p.Gly139=) rs886049674
NM_002905.5(RDH5):c.547G>T (p.Glu183Ter) rs1592521712
NM_002905.5(RDH5):c.71_74del (p.Leu24fs) rs776634113

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