ClinVar Miner

List of variants in gene OCRL reported as likely pathogenic for Dent disease

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000276.4(OCRL):c.1040G>A (p.Gly347Glu) rs1057521742
NM_000276.4(OCRL):c.108del (p.Asn36fs)
NM_000276.4(OCRL):c.111del (p.Gln38fs)
NM_000276.4(OCRL):c.1244+1G>A rs1936163310
NM_000276.4(OCRL):c.1580T>A (p.Val527Asp)
NM_000276.4(OCRL):c.1713+2T>C rs2124417909
NM_000276.4(OCRL):c.187_199+449del rs1556338810
NM_000276.4(OCRL):c.2209G>A (p.Glu737Lys)
NM_000276.4(OCRL):c.2582-1G>C
NM_000276.4(OCRL):c.533del (p.Pro178fs) rs1602782082
NM_000276.4(OCRL):c.953G>A (p.Arg318His) rs2124405779

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