ClinVar Miner

List of variants studied for Dent disease type 1 by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
CLCN5, ALU INS, EX11
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.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.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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