ClinVar Miner

List of variants reported as pathogenic for Dent disease by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001127898.4(CLCN5):c.1012G>T (p.Glu338Ter) rs1933873534
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter) rs797044810
NM_001127898.4(CLCN5):c.1329dup (p.Asn444fs) rs1933898062
NM_001127898.4(CLCN5):c.1441A>T (p.Lys481Ter) rs1933903437
NM_001127898.4(CLCN5):c.1452del (p.Glu484fs)

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