ClinVar Miner

List of variants studied for Cystinuria by Revvity Omics, Revvity

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014270.5(SLC7A9):c.978-17G>A rs45628833 0.00315
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00239
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_014270.5(SLC7A9):c.526G>A (p.Val176Ile) rs138744722 0.00160
NM_000341.4(SLC3A1):c.592del (p.Ala198fs) rs778000327 0.00025
NM_000341.4(SLC3A1):c.680G>A (p.Arg227Gln) rs142469446 0.00025
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter) rs200483989 0.00019
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg) rs121908480 0.00018
NM_014270.5(SLC7A9):c.512G>A (p.Arg171Gln) rs376464389 0.00008
NM_000341.4(SLC3A1):c.1390G>A (p.Val464Met) rs561079654 0.00004
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp) rs121908484 0.00004
NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr) rs187962930 0.00003
NM_014270.5(SLC7A9):c.251C>T (p.Ala84Val) rs148334096 0.00001
NM_000341.4(SLC3A1):c.1012-9_1012del rs2104364101
NM_000341.4(SLC3A1):c.1219T>G (p.Phe407Val) rs2465949325
NM_000341.4(SLC3A1):c.1332+2T>A rs758627758
NM_000341.4(SLC3A1):c.1403T>G (p.Leu468Arg) rs2104383996
NM_000341.4(SLC3A1):c.1823ATA[1] (p.Asn609del) rs1672827519
NM_000341.4(SLC3A1):c.533A>C (p.Glu178Ala) rs1671479591
NM_000341.4(SLC3A1):c.891+4A>G rs2465902056
NM_014270.5(SLC7A9):c.1043G>A (p.Arg348His) rs772826926
NM_014270.5(SLC7A9):c.1210G>T (p.Glu404Ter) rs766981518
NM_014270.5(SLC7A9):c.1266_1267del (p.Leu424fs) rs779653925
NM_014270.5(SLC7A9):c.1306G>T (p.Glu436Ter) rs988712826
NM_014270.5(SLC7A9):c.1362T>G (p.Phe454Leu) rs2513539035
NM_014270.5(SLC7A9):c.547G>C (p.Ala183Pro) rs201766636
NM_014270.5(SLC7A9):c.614dup (p.Asn206fs) rs745319034

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.