ClinVar Miner

List of variants reported as uncertain significance for Cystinuria by Invitae

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000341.4(SLC3A1):c.1846G>A (p.Ala616Thr) rs143740561 0.00051
NM_000341.4(SLC3A1):c.1381T>C (p.Tyr461His) rs144162964 0.00044
NM_000341.4(SLC3A1):c.241C>T (p.Arg81Cys) rs149813423 0.00042
NM_000341.4(SLC3A1):c.1768G>A (p.Asp590Asn) rs200436145 0.00039
NM_000341.4(SLC3A1):c.322A>G (p.Ile108Val) rs138597262 0.00037
NM_000341.4(SLC3A1):c.680G>A (p.Arg227Gln) rs142469446 0.00025
NM_000341.4(SLC3A1):c.901C>T (p.Arg301Trp) rs200001296 0.00019
NM_000341.4(SLC3A1):c.863G>A (p.Arg288His) rs375237049 0.00016
NM_000341.4(SLC3A1):c.1474G>A (p.Ala492Thr) rs201989712 0.00014
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu) rs141944551 0.00009
NM_000341.4(SLC3A1):c.1012G>C (p.Asp338His) rs140452488 0.00008
NM_000341.4(SLC3A1):c.247C>T (p.Arg83Cys) rs148946634 0.00007
NM_000341.4(SLC3A1):c.313A>G (p.Ile105Val) rs200093674 0.00006
NM_000341.4(SLC3A1):c.569T>C (p.Met190Thr) rs772817732 0.00005
NM_000341.4(SLC3A1):c.1796T>C (p.Phe599Ser) rs146963107 0.00004
NM_000341.4(SLC3A1):c.17G>A (p.Ser6Asn) rs147004629 0.00004
NM_000341.4(SLC3A1):c.1870A>G (p.Thr624Ala) rs781253461 0.00004
NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr) rs187962930 0.00003
NM_000341.4(SLC3A1):c.1510C>T (p.Arg504Cys) rs201143887 0.00003
NM_000341.4(SLC3A1):c.1157A>G (p.Tyr386Cys) rs764849767 0.00002
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His) rs373852467 0.00002
NM_000341.4(SLC3A1):c.1098G>C (p.Gln366His) rs745473969 0.00001
NM_000341.4(SLC3A1):c.1181T>C (p.Val394Ala) rs1238384854 0.00001
NM_000341.4(SLC3A1):c.1199C>T (p.Pro400Leu) rs759029819 0.00001
NM_000341.4(SLC3A1):c.1259C>G (p.Ser420Cys) rs1031709288 0.00001
NM_000341.4(SLC3A1):c.1406T>G (p.Leu469Arg) rs1469809535 0.00001
NM_000341.4(SLC3A1):c.1921G>T (p.Asp641Tyr) rs267599386 0.00001
NM_000341.4(SLC3A1):c.1991A>G (p.Asp664Gly) rs377448239 0.00001
NM_000341.4(SLC3A1):c.67G>A (p.Gly23Arg) rs750919380 0.00001
NM_000341.4(SLC3A1):c.100A>G (p.Thr34Ala)
NM_000341.4(SLC3A1):c.1010C>T (p.Pro337Leu)
NM_000341.4(SLC3A1):c.1012-11G>A
NM_000341.4(SLC3A1):c.1012-3A>G
NM_000341.4(SLC3A1):c.1082T>C (p.Val361Ala)
NM_000341.4(SLC3A1):c.1104G>A (p.Met368Ile)
NM_000341.4(SLC3A1):c.1157A>C (p.Tyr386Ser)
NM_000341.4(SLC3A1):c.1166G>A (p.Ser389Asn)
NM_000341.4(SLC3A1):c.1237C>G (p.Leu413Val)
NM_000341.4(SLC3A1):c.1253C>A (p.Thr418Asn)
NM_000341.4(SLC3A1):c.1258T>C (p.Ser420Pro)
NM_000341.4(SLC3A1):c.1364C>G (p.Ser455Trp)
NM_000341.4(SLC3A1):c.1394T>C (p.Met465Thr)
NM_000341.4(SLC3A1):c.13A>G (p.Lys5Glu)
NM_000341.4(SLC3A1):c.1403T>G (p.Leu468Arg) rs2104383996
NM_000341.4(SLC3A1):c.1412C>G (p.Thr471Arg)
NM_000341.4(SLC3A1):c.1435T>C (p.Tyr479His)
NM_000341.4(SLC3A1):c.1523C>A (p.Pro508Gln)
NM_000341.4(SLC3A1):c.1594G>C (p.Asp532His)
NM_000341.4(SLC3A1):c.1612G>A (p.Val538Ile)
NM_000341.4(SLC3A1):c.1684G>C (p.Glu562Gln)
NM_000341.4(SLC3A1):c.1701G>T (p.Arg567Ser) rs904926333
NM_000341.4(SLC3A1):c.1702G>A (p.Gly568Ser)
NM_000341.4(SLC3A1):c.1823ATA[1] (p.Asn609del) rs1672827519
NM_000341.4(SLC3A1):c.1882G>A (p.Asp628Asn)
NM_000341.4(SLC3A1):c.1945G>A (p.Glu649Lys)
NM_000341.4(SLC3A1):c.1954A>G (p.Thr652Ala)
NM_000341.4(SLC3A1):c.2027G>A (p.Ser676Asn)
NM_000341.4(SLC3A1):c.2054G>A (p.Cys685Tyr)
NM_000341.4(SLC3A1):c.290T>C (p.Val97Ala) rs147701210
NM_000341.4(SLC3A1):c.322A>T (p.Ile108Phe)
NM_000341.4(SLC3A1):c.368T>C (p.Met123Thr)
NM_000341.4(SLC3A1):c.418G>A (p.Gly140Arg)
NM_000341.4(SLC3A1):c.438A>T (p.Gln146His)
NM_000341.4(SLC3A1):c.554C>T (p.Pro185Leu)
NM_000341.4(SLC3A1):c.566C>A (p.Thr189Lys) rs140317484
NM_000341.4(SLC3A1):c.612T>C (p.Gly204=)
NM_000341.4(SLC3A1):c.628G>A (p.Asp210Asn)
NM_000341.4(SLC3A1):c.685C>T (p.Arg229Trp) rs758636942
NM_000341.4(SLC3A1):c.686G>A (p.Arg229Gln)
NM_000341.4(SLC3A1):c.724T>C (p.Cys242Arg)
NM_000341.4(SLC3A1):c.725G>C (p.Cys242Ser)
NM_000341.4(SLC3A1):c.762C>A (p.Asn254Lys)
NM_000341.4(SLC3A1):c.824T>C (p.Phe275Ser)
NM_000341.4(SLC3A1):c.851A>T (p.Asp284Val) rs933907652
NM_000341.4(SLC3A1):c.8A>G (p.Glu3Gly)
NM_000341.4(SLC3A1):c.902G>A (p.Arg301Gln)
NM_000341.4(SLC3A1):c.919G>C (p.Gly307Arg)
NM_000341.4(SLC3A1):c.929G>A (p.Gly310Asp) rs1671962088

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