ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005993.5(TBCD):c.2137C>T (p.His713Tyr) rs200903034 0.00026
NM_005993.5(TBCD):c.2638A>T (p.Met880Leu) rs199972447 0.00025
NM_005993.5(TBCD):c.2582C>T (p.Thr861Met) rs370658754 0.00022
NM_005993.5(TBCD):c.541G>C (p.Ala181Pro) rs201980005 0.00019
NM_005993.5(TBCD):c.1301C>T (p.Pro434Leu) rs201042677 0.00018
NM_005993.5(TBCD):c.2368C>T (p.Arg790Trp) rs200557085 0.00012
NM_005993.5(TBCD):c.1265C>T (p.Ala422Val) rs139015738 0.00011
NM_005993.5(TBCD):c.2242G>A (p.Ala748Thr) rs372679788 0.00011
NM_005993.5(TBCD):c.1001A>G (p.Gln334Arg) rs200305278 0.00009
NM_005993.5(TBCD):c.1048G>A (p.Glu350Lys) rs201515629 0.00009
NM_005993.5(TBCD):c.1826T>G (p.Met609Arg) rs372610438 0.00009
NM_005993.5(TBCD):c.1913A>G (p.Gln638Arg) rs539457901 0.00009
NM_005993.5(TBCD):c.2273C>T (p.Thr758Met) rs374216515 0.00008
NM_005993.5(TBCD):c.553A>G (p.Ile185Val) rs569286722 0.00008
NM_005993.5(TBCD):c.2549G>A (p.Cys850Tyr) rs189096321 0.00007
NM_005993.5(TBCD):c.1851G>A (p.Met617Ile) rs765676190 0.00006
NM_005993.5(TBCD):c.2884C>A (p.Pro962Thr) rs755509549 0.00006
NM_005993.5(TBCD):c.1994G>A (p.Arg665His) rs371761720 0.00005
NM_005993.5(TBCD):c.3485C>T (p.Ala1162Val) rs372662619 0.00005
NM_005993.5(TBCD):c.1931C>T (p.Thr644Met) rs368254454 0.00004
NM_005993.5(TBCD):c.2663G>A (p.Arg888Gln) rs761114963 0.00004
NM_005993.5(TBCD):c.2723A>G (p.Gln908Arg) rs770264615 0.00004
NM_005993.5(TBCD):c.3476C>T (p.Ala1159Val) rs375065191 0.00004
NM_005993.5(TBCD):c.874C>G (p.Leu292Val) rs375327000 0.00004
NM_005993.5(TBCD):c.991C>G (p.Leu331Val) rs369989197 0.00004
NM_005993.5(TBCD):c.110G>A (p.Arg37Gln) rs750366038 0.00003
NM_005993.5(TBCD):c.1589T>C (p.Ile530Thr) rs756308366 0.00003
NM_005993.5(TBCD):c.1615G>A (p.Val539Ile) rs550172307 0.00003
NM_005993.5(TBCD):c.1927G>A (p.Val643Ile) rs199679092 0.00003
NM_005993.5(TBCD):c.2993T>G (p.Ile998Ser) rs777568715 0.00003
NM_005993.5(TBCD):c.3277G>A (p.Ala1093Thr) rs767597705 0.00003
NM_005993.5(TBCD):c.3433G>A (p.Ala1145Thr) rs778597687 0.00003
NM_005993.5(TBCD):c.1156A>G (p.Arg386Gly) rs901666996 0.00002
NM_005993.5(TBCD):c.1369T>C (p.Cys457Arg) rs369436693 0.00002
NM_005993.5(TBCD):c.2867C>T (p.Ser956Phe) rs567316358 0.00002
NM_005993.5(TBCD):c.3451G>T (p.Val1151Leu) rs570910494 0.00002
NM_005993.5(TBCD):c.625G>A (p.Val209Ile) rs560749650 0.00002
NM_005993.5(TBCD):c.1244C>T (p.Ala415Val) rs763143236 0.00001
NM_005993.5(TBCD):c.1387G>A (p.Val463Ile) rs371619945 0.00001
NM_005993.5(TBCD):c.1695C>A (p.Asp565Glu) rs766250243 0.00001
NM_005993.5(TBCD):c.1720C>T (p.His574Tyr) rs771477529 0.00001
NM_005993.5(TBCD):c.1979A>G (p.Gln660Arg) rs753327888 0.00001
NM_005993.5(TBCD):c.2351G>A (p.Gly784Asp) rs1278894404 0.00001
NM_005993.5(TBCD):c.2369G>A (p.Arg790Gln) rs761476887 0.00001
NM_005993.5(TBCD):c.2690A>G (p.His897Arg) rs745875454 0.00001
NM_005993.5(TBCD):c.2720C>T (p.Ala907Val) rs199509385 0.00001
NM_005993.5(TBCD):c.2780C>T (p.Thr927Met) rs370298242 0.00001
NM_005993.5(TBCD):c.2944G>A (p.Val982Ile) rs760846090 0.00001
NM_005993.5(TBCD):c.3160G>A (p.Gly1054Ser) rs778040959 0.00001
NM_005993.5(TBCD):c.3424G>A (p.Val1142Ile) rs757618357 0.00001
NM_005993.5(TBCD):c.3538G>A (p.Val1180Ile) rs767635450 0.00001
NM_005993.5(TBCD):c.653C>G (p.Pro218Arg) rs779456572 0.00001
NM_005993.5(TBCD):c.704A>G (p.Asn235Ser) rs2048956409 0.00001
NM_005993.5(TBCD):c.739G>A (p.Val247Ile) rs753825990 0.00001
NM_005993.5(TBCD):c.749T>C (p.Met250Thr) rs2510688290 0.00001
NM_005993.5(TBCD):c.82G>A (p.Glu28Lys) rs916503100 0.00001
NM_005993.5(TBCD):c.841G>A (p.Asp281Asn) rs1345239400 0.00001
NM_005993.5(TBCD):c.932C>T (p.Pro311Leu) rs780136255 0.00001
NM_005993.5(TBCD):c.1039G>A (p.Asp347Asn)
NM_005993.5(TBCD):c.1174C>T (p.Pro392Ser) rs995978899
NM_005993.5(TBCD):c.1483G>A (p.Val495Met) rs977705282
NM_005993.5(TBCD):c.1498T>C (p.Phe500Leu)
NM_005993.5(TBCD):c.1505G>A (p.Arg502Gln)
NM_005993.5(TBCD):c.1699C>G (p.Leu567Val) rs145180850
NM_005993.5(TBCD):c.1784C>A (p.Pro595His) rs2060024691
NM_005993.5(TBCD):c.1837C>T (p.Pro613Ser) rs760825079
NM_005993.5(TBCD):c.187A>T (p.Ile63Leu)
NM_005993.5(TBCD):c.2001A>T (p.Leu667Phe)
NM_005993.5(TBCD):c.2164C>A (p.Arg722Ser) rs548213550
NM_005993.5(TBCD):c.2225T>C (p.Met742Thr) rs1287005150
NM_005993.5(TBCD):c.2366G>C (p.Gly789Ala) rs753415681
NM_005993.5(TBCD):c.2468C>A (p.Ala823Glu) rs749860401
NM_005993.5(TBCD):c.255G>T (p.Leu85Phe)
NM_005993.5(TBCD):c.2650C>G (p.Leu884Val)
NM_005993.5(TBCD):c.2746C>T (p.Arg916Cys)
NM_005993.5(TBCD):c.2750T>G (p.Phe917Cys)
NM_005993.5(TBCD):c.2869G>A (p.Val957Met) rs2062018094
NM_005993.5(TBCD):c.2936G>T (p.Arg979Leu) rs774219082
NM_005993.5(TBCD):c.3182C>T (p.Thr1061Met)
NM_005993.5(TBCD):c.3266T>C (p.Leu1089Pro)
NM_005993.5(TBCD):c.3280G>A (p.Val1094Met)
NM_005993.5(TBCD):c.3300G>C (p.Gln1100His)
NM_005993.5(TBCD):c.3510G>T (p.Gln1170His) rs1568114230
NM_005993.5(TBCD):c.379G>A (p.Ala127Thr) rs775562890
NM_005993.5(TBCD):c.379G>C (p.Ala127Pro)
NM_005993.5(TBCD):c.401A>G (p.Asp134Gly)
NM_005993.5(TBCD):c.49G>C (p.Glu17Gln)
NM_005993.5(TBCD):c.535G>C (p.Gly179Arg) rs2144040692
NM_005993.5(TBCD):c.54C>G (p.Asp18Glu) rs1003016750
NM_005993.5(TBCD):c.704A>T (p.Asn235Ile) rs2048956409
NM_005993.5(TBCD):c.712C>T (p.Arg238Cys)
NM_005993.5(TBCD):c.716C>A (p.Ser239Tyr)

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.