ClinVar Miner

List of variants studied for Dent disease by OMIM

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NG_007159.3:g.173054_173069dupinsAluYa5
NM_000276.4(OCRL):c.1436A>G (p.Tyr479Cys) rs137853262
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.952C>T (p.Arg318Cys) rs137853263
NM_001127898.4(CLCN5):c.1047G>A (p.Trp349Ter) rs151340620
NM_001127898.4(CLCN5):c.1049G>C (p.Arg350Pro) rs151340628
NM_001127898.4(CLCN5):c.1238G>A (p.Trp413Ter) rs151340627
NM_001127898.4(CLCN5):c.1557+1G>T rs1569540382
NM_001127898.4(CLCN5):c.1727G>A (p.Gly576Glu) rs151340625
NM_001127898.4(CLCN5):c.1768T>C (p.Ser590Pro) rs151340623
NM_001127898.4(CLCN5):c.2152C>T (p.Arg718Ter) rs151340621
NM_001127898.4(CLCN5):c.2295del (p.Met766fs) rs1569540520
NM_001127898.4(CLCN5):c.2320C>T (p.Arg774Ter) rs151340624
NM_001127898.4(CLCN5):c.380G>T (p.Gly127Val) rs151340629
NM_001127898.4(CLCN5):c.809T>G (p.Leu270Arg) rs151340622
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu) rs151340626
NM_001127898.4(CLCN5):c.989G>T (p.Gly330Val) rs151340630

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