ClinVar Miner

List of variants in gene TMEM260 reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017799.4(TMEM260):c.1655T>C (p.Ile552Thr) rs139089534 0.00109
NM_017799.4(TMEM260):c.1781T>C (p.Met594Thr) rs370852423 0.00029
NM_017799.4(TMEM260):c.685G>A (p.Gly229Ser) rs149569336 0.00029
NM_017799.4(TMEM260):c.1994C>T (p.Ser665Leu) rs147042249 0.00028
NM_017799.4(TMEM260):c.2102T>C (p.Leu701Pro) rs150654769 0.00025
NM_017799.4(TMEM260):c.1936G>A (p.Ala646Thr) rs139019192 0.00010
NM_017799.4(TMEM260):c.737G>A (p.Arg246Gln) rs564881081 0.00008
NM_017799.4(TMEM260):c.1954C>T (p.Arg652Cys) rs761536791 0.00007
NM_017799.4(TMEM260):c.2009A>G (p.His670Arg) rs561851360 0.00007
NM_017799.4(TMEM260):c.284A>G (p.Asn95Ser) rs376818032 0.00006
NM_017799.4(TMEM260):c.1232G>C (p.Cys411Ser) rs756895893 0.00005
NM_017799.4(TMEM260):c.1816A>T (p.Thr606Ser) rs148418133 0.00005
NM_017799.4(TMEM260):c.1586A>G (p.Asp529Gly) rs372321580 0.00004
NM_017799.4(TMEM260):c.542T>G (p.Phe181Cys) rs758113994 0.00003
NM_017799.4(TMEM260):c.709C>A (p.Pro237Thr) rs369106454 0.00003
NM_017799.4(TMEM260):c.1489A>G (p.Ile497Val) rs376435235 0.00002
NM_017799.4(TMEM260):c.752A>T (p.Asp251Val) rs200360003 0.00002
NM_017799.4(TMEM260):c.1193T>C (p.Leu398Pro) rs746018532 0.00001
NM_017799.4(TMEM260):c.1466A>C (p.Asn489Thr) rs750319409 0.00001
NM_017799.4(TMEM260):c.1840A>G (p.Lys614Glu) rs1477914635 0.00001
NM_017799.4(TMEM260):c.1906C>A (p.Pro636Thr) rs1464261254 0.00001
NM_017799.4(TMEM260):c.1927T>C (p.Tyr643His) rs149164728 0.00001
NM_017799.4(TMEM260):c.2014C>T (p.Arg672Cys) rs369556391 0.00001
NM_017799.4(TMEM260):c.237A>T (p.Lys79Asn) rs759981900 0.00001
NM_017799.4(TMEM260):c.401G>A (p.Arg134His) rs145455864 0.00001
NM_017799.4(TMEM260):c.545G>A (p.Cys182Tyr) rs779641681 0.00001
NM_017799.4(TMEM260):c.577A>G (p.Ile193Val) rs761785568 0.00001
NM_017799.4(TMEM260):c.605C>G (p.Pro202Arg) rs1223560151 0.00001
NM_017799.4(TMEM260):c.730C>T (p.His244Tyr) rs760350980 0.00001
NM_017799.4(TMEM260):c.955C>G (p.Pro319Ala) rs772521964 0.00001
NM_017799.4(TMEM260):c.1052G>A (p.Gly351Asp)
NM_017799.4(TMEM260):c.1120G>A (p.Ala374Thr)
NM_017799.4(TMEM260):c.1136C>A (p.Thr379Asn) rs2503575096
NM_017799.4(TMEM260):c.1142G>A (p.Arg381Gln)
NM_017799.4(TMEM260):c.1192C>G (p.Leu398Val)
NM_017799.4(TMEM260):c.1193T>G (p.Leu398Arg) rs746018532
NM_017799.4(TMEM260):c.1210A>G (p.Ile404Val)
NM_017799.4(TMEM260):c.1225A>G (p.Ser409Gly) rs376276411
NM_017799.4(TMEM260):c.1266C>G (p.Phe422Leu) rs1165116574
NM_017799.4(TMEM260):c.1288A>G (p.Met430Val)
NM_017799.4(TMEM260):c.1373C>T (p.Pro458Leu)
NM_017799.4(TMEM260):c.1430T>C (p.Met477Thr)
NM_017799.4(TMEM260):c.1468C>T (p.Arg490Trp) rs371601076
NM_017799.4(TMEM260):c.1585G>A (p.Asp529Asn)
NM_017799.4(TMEM260):c.1624G>A (p.Gly542Arg)
NM_017799.4(TMEM260):c.1646C>T (p.Pro549Leu)
NM_017799.4(TMEM260):c.1648T>A (p.Leu550Met)
NM_017799.4(TMEM260):c.1671G>C (p.Glu557Asp) rs760206915
NM_017799.4(TMEM260):c.1711G>A (p.Glu571Lys)
NM_017799.4(TMEM260):c.1790C>T (p.Pro597Leu) rs201705257
NM_017799.4(TMEM260):c.181C>T (p.His61Tyr)
NM_017799.4(TMEM260):c.1823A>C (p.His608Pro)
NM_017799.4(TMEM260):c.1946G>A (p.Arg649Gln)
NM_017799.4(TMEM260):c.1966A>G (p.Arg656Gly)
NM_017799.4(TMEM260):c.2006G>C (p.Arg669Thr)
NM_017799.4(TMEM260):c.2030A>C (p.Lys677Thr) rs2503702354
NM_017799.4(TMEM260):c.205C>G (p.Pro69Ala) rs771901254
NM_017799.4(TMEM260):c.239T>A (p.Leu80Gln)
NM_017799.4(TMEM260):c.241G>A (p.Ala81Thr) rs1885460384
NM_017799.4(TMEM260):c.400C>T (p.Arg134Cys) rs149705965
NM_017799.4(TMEM260):c.473C>T (p.Ala158Val) rs965964325
NM_017799.4(TMEM260):c.676T>G (p.Phe226Val) rs2503534185
NM_017799.4(TMEM260):c.694C>T (p.Pro232Ser) rs2503534289
NM_017799.4(TMEM260):c.799T>C (p.Tyr267His)

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.