ClinVar Miner

List of variants studied for cleft palate

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP
46;XY;t(10;17)(p13;q23)dn
46;XY;t(1;6)(q23;q13)dn
NM_001109878.2(TBX22):c.*293T>C
NM_001109878.2(TBX22):c.*347T>C rs142483621
NM_001109878.2(TBX22):c.*533A>T rs770782241
NM_001109878.2(TBX22):c.*57A>T rs1057515991
NM_001109878.2(TBX22):c.*6C>A rs137881052
NM_001109878.2(TBX22):c.*97C>A rs757571902
NM_001109878.2(TBX22):c.-103G>A rs73496511
NM_001109878.2(TBX22):c.-2-7C>A rs185298778
NM_001109878.2(TBX22):c.-2-7C>G rs185298778
NM_001109878.2(TBX22):c.-23A>G rs147593294
NM_001109878.2(TBX22):c.-28G>A rs746947861
NM_001109878.2(TBX22):c.1090C>T (p.Leu364=) rs147281246
NM_001109878.2(TBX22):c.1169C>A (p.Ala390Asp)
NM_001109878.2(TBX22):c.1252del (p.Val418fs) rs1602414282
NM_001109878.2(TBX22):c.1412C>T (p.Ser471Phe) rs1057515990
NM_001109878.2(TBX22):c.143G>A (p.Arg48Lys)
NM_001109878.2(TBX22):c.1488C>T (p.Asp496=) rs35602350
NM_001109878.2(TBX22):c.1544C>A (p.Ala515Glu) rs201336957
NM_001109878.2(TBX22):c.176-13C>A rs55760411
NM_001109878.2(TBX22):c.224G>T (p.Gly75Val)
NM_001109878.2(TBX22):c.240C>T (p.Tyr80=)
NM_001109878.2(TBX22):c.302T>A (p.Leu101Gln)
NM_001109878.2(TBX22):c.356+6G>C
NM_001109878.2(TBX22):c.549C>G (p.Pro183=)
NM_001109878.2(TBX22):c.554C>T (p.Ser185Leu) rs765734398
NM_001109878.2(TBX22):c.559G>A (p.Glu187Lys) rs34244923
NM_001109878.2(TBX22):c.72C>T (p.Leu24=) rs138387312
NM_001109878.2(TBX22):c.798+11T>C rs199643713
NM_001109878.2(TBX22):c.799-13A>G
NM_001109878.2(TBX22):c.804G>A (p.Thr268=) rs150811689
NM_001109878.2(TBX22):c.864-11C>T
NM_001109878.2(TBX22):c.883T>C (p.Leu295=) rs195293
NM_001109878.2(TBX22):c.949+12T>G rs151121450
NM_001128849.2(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_003722.5(TP63):c.1646T>C (p.Ile549Thr) rs121908845
NM_003722.5(TP63):c.1738T>C (p.Ser580Pro) rs121908846
NM_003722.5(TP63):c.1790T>C (p.Ile597Thr) rs1577213466
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840
NM_004115.3(FGF14):c.486dup (p.Arg163fs) rs1566823361
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) rs28942094
NM_006206.6(PDGFRA):c.1202C>A (p.Ala401Asp) rs397514549
NM_006206.6(PDGFRA):c.1631T>C (p.Val544Ala) rs181854060
NM_006206.6(PDGFRA):c.3155C>T (p.Thr1052Met) rs397514550
NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_152424.4(AMER1):c.1489del (p.Arg497fs) rs1602067592
NM_182943.3(PLOD2):c.1361G>T (p.Gly454Val) rs778360818
NM_182943.3(PLOD2):c.2038C>T (p.Arg680Ter) rs780770356
NM_198173.2(GRHL3):c.916delCinsCC (p.Arg306Profs) rs886037769
NM_198173.3(GRHL3):c.1285+2del rs886037770
NM_198173.3(GRHL3):c.738C>T (p.Gly246=) rs886037767
NM_198173.3(GRHL3):c.840+1G>T rs886037768
TP63, 1-BP DEL, 1709A
TP63, 1-BP DEL, 1783C
TP63, 1-BP DEL, 1859A
TP63, 11-BP DUP, NT1716

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.