ClinVar Miner

List of variants studied for Dent disease by Institute of Human Genetics, University of Leipzig Medical Center

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.2342G>C (p.Cys781Ser) rs946613180 0.00002
NM_000276.4(OCRL):c.1466+4A>G rs1026438062
NM_000276.4(OCRL):c.2651_2653del (p.Arg884del) rs1936569806
NM_001127898.4(CLCN5):c.332_333del (p.Lys111fs) rs1933254834
NM_001127898.4(CLCN5):c.961G>A (p.Val321Ile) rs1557193807

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