ClinVar Miner

List of variants reported as pathogenic for Dent disease type 1 by GeneReviews

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.(?_49922616)_(50099235_?)del
NG_007159.3:g.(?_162979)_(164232_?)del
NM_001127898.4(CLCN5):c.2393_2415del (p.Val798fs) rs797044815
Single allele

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