ClinVar Miner

List of variants in gene SLC7A9 reported as pathogenic for Cystinuria

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00239
NM_014270.5(SLC7A9):c.-26G>T rs375495587 0.00042
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00018
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.671C>T (p.Ala224Val) rs140873167 0.00006
NM_014270.5(SLC7A9):c.1400-2A>G rs2145788754 0.00005
NM_014270.5(SLC7A9):c.604+2T>C rs763110287 0.00005
NM_014270.5(SLC7A9):c.511C>T (p.Arg171Trp) rs758242098 0.00004
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484 0.00004
NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter) rs1007096305 0.00001
NM_014270.5(SLC7A9):c.1399+2dup rs755715459 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
NM_014270.5(SLC7A9):c.730del (p.Glu244fs) rs760452532 0.00001
NM_014270.5(SLC7A9):c.1224+4167_1324del
NM_014270.5(SLC7A9):c.1262_1263del (p.Ser421fs) rs753692696
NM_014270.5(SLC7A9):c.131T>C (p.Ile44Thr) rs121908485
NM_014270.5(SLC7A9):c.1397C>A (p.Ser466Ter) rs1967855547
NM_014270.5(SLC7A9):c.1399+1G>C
NM_014270.5(SLC7A9):c.1399+2T>C
NM_014270.5(SLC7A9):c.1445C>T (p.Pro482Leu) rs146815072
NM_014270.5(SLC7A9):c.206G>A (p.Trp69Ter) rs2513609886
NM_014270.5(SLC7A9):c.220dup (p.Val74fs)
NM_014270.5(SLC7A9):c.235+1del rs2513609715
NM_014270.5(SLC7A9):c.335dup (p.Ser113fs) rs2513608437
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.584G>A (p.Gly195Glu)
NM_014270.5(SLC7A9):c.604+1G>A rs1968829014
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs) rs745319034
NM_014270.5(SLC7A9):c.74del (p.Ser25fs)
NM_014270.5(SLC7A9):c.775G>A (p.Gly259Arg) rs121908483
NM_014270.5(SLC7A9):c.785del (p.Leu262fs)

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