ClinVar Miner

List of variants reported as pathogenic for Cystinuria by OMIM

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00017
NM_014270.5(SLC7A9):c.782C>T (p.Pro261Leu) rs121908486 0.00014
NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys) rs121908487 0.00012
NM_014270.5(SLC7A9):c.604+2T>C rs763110287 0.00005
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484 0.00004
NM_000341.4(SLC3A1):c.1085G>A (p.Arg362His) rs121912697 0.00001
NM_000341.4(SLC3A1):c.1843C>A (p.Pro615Thr) rs121912696 0.00001
NM_014270.5(SLC7A9):c.583G>A (p.Gly195Arg) rs121908482 0.00001
NM_014270.5(SLC7A9):c.605-3C>A rs749913021 0.00001
NG_008233.1:g.17226_17227[ins17227_48142;GTTTGCATAGGCACAGAATGTAT]
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000341.4(SLC3A1):c.1597T>A (p.Tyr533Asn) rs387907276
NM_000341.4(SLC3A1):c.1955C>G (p.Thr652Arg) rs121912695
NM_000341.4(SLC3A1):c.2033T>C (p.Leu678Pro) rs121912693
NM_000341.4(SLC3A1):c.542G>A (p.Arg181Gln) rs121912694
NM_014270.5(SLC7A9):c.131T>C (p.Ile44Thr) rs121908485
NM_014270.5(SLC7A9):c.335dup (p.Ser113fs)
NM_014270.5(SLC7A9):c.411_412del (p.Pro139fs) rs774124697
NM_014270.5(SLC7A9):c.508G>A (p.Val170Met) rs121908479
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs) rs745319034
NM_014270.5(SLC7A9):c.775G>A (p.Gly259Arg) rs121908483

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