ClinVar Miner

List of variants studied for Dent disease type 2 by Mendelics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000276.4(OCRL):c.1458G>A (p.Trp486Ter) rs2124410812
NM_000276.4(OCRL):c.1713+2T>C rs2124417909
NM_000276.4(OCRL):c.217_218del (p.Leu73fs) rs2124392540

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