ClinVar Miner

List of variants reported as uncertain significance for Dent disease type 1; Hypophosphatemic rickets, X-linked recessive; X-linked recessive nephrolithiasis with renal failure; Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001127898.4(CLCN5):c.926G>A (p.Arg309His) rs147798092 0.00014
NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His) rs148124447 0.00011
NM_001127898.4(CLCN5):c.1942C>T (p.His648Tyr) rs782515769 0.00006
NM_001127898.4(CLCN5):c.925C>T (p.Arg309Cys) rs782056386 0.00006
NM_001127898.4(CLCN5):c.1426C>T (p.Arg476Cys) rs782540790 0.00005
NM_001127898.4(CLCN5):c.2198C>T (p.Thr733Met) rs781924436 0.00005
NM_001127898.4(CLCN5):c.2305G>A (p.Val769Ile) rs201962580 0.00005
NM_001127898.4(CLCN5):c.298C>T (p.Arg100Trp) rs200225080 0.00005
NM_001127898.4(CLCN5):c.299G>A (p.Arg100Gln) rs782470964 0.00005
NM_001127898.4(CLCN5):c.332A>G (p.Lys111Arg) rs1283938282 0.00005
NM_001127898.4(CLCN5):c.2201A>C (p.Glu734Ala) rs147378499 0.00004
NM_001127898.4(CLCN5):c.2249G>A (p.Arg750Gln) rs1445078592 0.00004
NM_001127898.4(CLCN5):c.331A>C (p.Lys111Gln) rs376833330 0.00004
NM_001127898.4(CLCN5):c.448C>A (p.His150Asn) rs782412118 0.00004
NM_001127898.4(CLCN5):c.1537A>G (p.Ile513Val) rs1210108844 0.00002
NM_001127898.4(CLCN5):c.2188A>G (p.Ile730Val) rs782088515 0.00002
NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser) rs946613180 0.00002
NM_001127898.4(CLCN5):c.1486A>G (p.Ser496Gly) rs1249181679 0.00001
NM_001127898.4(CLCN5):c.1975C>T (p.Arg659Trp) rs782594764 0.00001
NM_001127898.4(CLCN5):c.342A>G (p.Thr114=) rs782744969 0.00001
NM_001127898.4(CLCN5):c.1014+3A>T
NM_001127898.4(CLCN5):c.1038A>G (p.Lys346=)
NM_001127898.4(CLCN5):c.1145C>A (p.Thr382Asn) rs2519433568
NM_001127898.4(CLCN5):c.1244G>T (p.Arg415Leu) rs190451218
NM_001127898.4(CLCN5):c.1333G>A (p.Glu445Lys)
NM_001127898.4(CLCN5):c.1342C>T (p.Arg448Trp)
NM_001127898.4(CLCN5):c.1343G>A (p.Arg448Gln)
NM_001127898.4(CLCN5):c.1349G>A (p.Ser450Asn)
NM_001127898.4(CLCN5):c.1375T>C (p.Phe459Leu)
NM_001127898.4(CLCN5):c.1561C>T (p.Pro521Ser)
NM_001127898.4(CLCN5):c.1744+16A>T
NM_001127898.4(CLCN5):c.2023G>A (p.Val675Met)
NM_001127898.4(CLCN5):c.2090A>G (p.Glu697Gly)
NM_001127898.4(CLCN5):c.2293C>T (p.Pro765Ser) rs782267039
NM_001127898.4(CLCN5):c.293G>A (p.Arg98Gln)
NM_001127898.4(CLCN5):c.416G>A (p.Gly139Asp)
NM_001127898.4(CLCN5):c.449A>G (p.His150Arg)
NM_001127898.4(CLCN5):c.596C>G (p.Thr199Arg)
NM_001127898.4(CLCN5):c.633C>A (p.Phe211Leu)
NM_001127898.4(CLCN5):c.655C>A (p.Leu219Ile)
NM_001127898.4(CLCN5):c.673G>A (p.Val225Ile)
NM_001127898.4(CLCN5):c.809T>C (p.Leu270Pro)

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