ClinVar Miner

List of variants in gene OCRL reported as pathogenic for Dent disease type 2

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NG_008638.1:g.(5550_9683)_(13328_22050)del
NM_000276.4(OCRL):c.1056+1G>A
NM_000276.4(OCRL):c.1245-1083G>A rs1936192276
NM_000276.4(OCRL):c.1436A>G (p.Tyr479Cys) rs137853262
NM_000276.4(OCRL):c.1458G>A (p.Trp486Ter) rs2124410812
NM_000276.4(OCRL):c.1467-1G>A
NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp) rs137853846
NM_000276.4(OCRL):c.1598T>C (p.Ile533Thr) rs2124412922
NM_000276.4(OCRL):c.167_168del (p.Ile56fs) rs2124388022
NM_000276.4(OCRL):c.2078C>T (p.Pro693Leu) rs1936370877
NM_000276.4(OCRL):c.217_218del (p.Leu73fs) rs2124392540
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter) rs1602819835
NM_000276.4(OCRL):c.940-11G>A rs776743373
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys) rs137853263
Single allele

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