ClinVar Miner

List of variants in gene TOPORS reported as uncertain significance for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005802.5(TOPORS):c.*117A>G rs752719297 0.00020
NM_005802.5(TOPORS):c.2347G>C (p.Gly783Arg) rs148620735 0.00019
NM_005802.5(TOPORS):c.*300A>G rs911094732 0.00017
NM_005802.5(TOPORS):c.2862A>C (p.Thr954=) rs143560726 0.00017
NM_005802.5(TOPORS):c.*371T>C rs970207555 0.00014
NM_005802.5(TOPORS):c.*100C>G rs886063852 0.00010
NM_005802.5(TOPORS):c.360A>G (p.Leu120=) rs147302494 0.00008
NM_005802.5(TOPORS):c.*309G>A rs531812368 0.00007
NM_005802.5(TOPORS):c.*640T>A rs753971890 0.00007
NM_005802.5(TOPORS):c.*47A>G rs778217226 0.00006
NM_005802.5(TOPORS):c.671A>G (p.Asp224Gly) rs147071021 0.00006
NM_005802.5(TOPORS):c.*341T>C rs563137078 0.00005
NM_005802.5(TOPORS):c.1707A>G (p.Ser569=) rs368712338 0.00005
NM_005802.5(TOPORS):c.715C>A (p.Pro239Thr) rs373410505 0.00005
NM_005802.5(TOPORS):c.*308C>T rs984434581 0.00004
NM_005802.5(TOPORS):c.2048G>A (p.Arg683Gln) rs149570596 0.00003
NM_005802.5(TOPORS):c.*686T>C rs192538022 0.00002
NM_005802.5(TOPORS):c.1353A>C (p.Thr451=) rs1382029583 0.00002
NM_005802.5(TOPORS):c.1725C>T (p.Asn575=) rs757674137 0.00002
NM_005802.5(TOPORS):c.1938A>C (p.Ser646=) rs376719585 0.00002
NM_005802.5(TOPORS):c.2873A>T (p.Glu958Val) rs757527959 0.00002
NM_005802.5(TOPORS):c.*24A>G rs191337644 0.00001
NM_005802.5(TOPORS):c.1170A>T (p.Ser390=) rs763061457 0.00001
NM_005802.5(TOPORS):c.1426G>C (p.Asp476His) rs886063854 0.00001
NM_005802.5(TOPORS):c.1788A>C (p.Arg596Ser) rs886063853 0.00001
NM_005802.5(TOPORS):c.1793G>C (p.Arg598Thr) rs749210641 0.00001
NM_005802.5(TOPORS):c.2010A>C (p.Ser670=) rs762871906 0.00001
NM_005802.5(TOPORS):c.2024G>A (p.Ser675Asn) rs111359713 0.00001
NM_005802.5(TOPORS):c.2967A>G (p.Ala989=) rs761500932 0.00001
NM_005802.5(TOPORS):c.568G>A (p.Ala190Thr) rs1305316061 0.00001
NM_005802.5(TOPORS):c.829C>T (p.Arg277Cys) rs770446904 0.00001
NM_005802.5(TOPORS):c.*350A>G rs979887725
NM_005802.5(TOPORS):c.*358T>C rs1821048003
NM_005802.5(TOPORS):c.*430A>G rs1821046786
NM_005802.5(TOPORS):c.*506A>G rs886063851
NM_005802.5(TOPORS):c.1379G>C (p.Gly460Ala) rs146483990
NM_005802.5(TOPORS):c.143G>T (p.Gly48Val) rs1587627051
NM_005802.5(TOPORS):c.1817G>A (p.Ser606Asn) rs1821086096
NM_005802.5(TOPORS):c.199-9C>T rs1176852169
NM_005802.5(TOPORS):c.2006G>A (p.Arg669Lys) rs1563983554
NM_005802.5(TOPORS):c.2038AGA[1] (p.Arg681del) rs1467439518
NM_005802.5(TOPORS):c.2161A>G (p.Arg721Gly) rs794727506
NM_005802.5(TOPORS):c.223T>C (p.Phe75Leu) rs1821114318
NM_005802.5(TOPORS):c.2319_2320delinsCG (p.Ser774Gly) rs1563983313
NM_005802.5(TOPORS):c.2321G>A (p.Ser774Asn) rs1821074946
NM_005802.5(TOPORS):c.2666A>G (p.His889Arg) rs762457246
NM_005802.5(TOPORS):c.2674A>C (p.Lys892Gln)
NM_005802.5(TOPORS):c.2791C>T (p.Pro931Ser)
NM_005802.5(TOPORS):c.2797G>T (p.Asp933Tyr) rs761851969
NM_005802.5(TOPORS):c.2866G>C (p.Glu956Gln)
NM_005802.5(TOPORS):c.3038G>A (p.Ser1013Asn) rs1821057345
NM_005802.5(TOPORS):c.3126_3127del (p.Cys1042_Asp1043delinsTer) rs776001696
NM_005802.5(TOPORS):c.487C>T (p.Leu163=) rs1319962569
NM_005802.5(TOPORS):c.74C>T (p.Ser25Leu) rs61758066
NM_005802.5(TOPORS):c.842T>A (p.Ile281Asn) rs1302485735

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.