ClinVar Miner

List of variants studied for cleft palate with or without ankyloglossia, X-linked

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_001109878.2(TBX22):c.883T>C (p.Leu295=) rs195293 0.09932
NM_001109878.2(TBX22):c.559G>A (p.Glu187Lys) rs34244923 0.04497
NM_001109878.2(TBX22):c.-103G>A rs73496511 0.02400
NM_001109878.2(TBX22):c.949+12T>G rs151121450 0.01780
NM_001109878.2(TBX22):c.72C>T (p.Leu24=) rs138387312 0.00852
NM_001109878.2(TBX22):c.*6C>A rs137881052 0.00802
NM_001109878.2(TBX22):c.798+11T>C rs199643713 0.00545
NM_001109878.2(TBX22):c.176-13C>A rs55760411 0.00447
NM_001109878.2(TBX22):c.-23A>G rs147593294 0.00280
NM_001109878.2(TBX22):c.804G>A (p.Thr268=) rs150811689 0.00266
NM_001109878.2(TBX22):c.*347T>C rs142483621 0.00211
NM_001109878.2(TBX22):c.356+6G>C rs373965779 0.00171
NM_001109878.2(TBX22):c.1488C>T (p.Asp496=) rs35602350 0.00133
NM_001109878.2(TBX22):c.-28G>A rs746947861 0.00098
NM_001109878.2(TBX22):c.1090C>T (p.Leu364=) rs147281246 0.00075
NM_001109878.2(TBX22):c.*97C>A rs757571902 0.00053
NM_001109878.2(TBX22):c.799-13A>G rs188139172 0.00038
NM_001109878.2(TBX22):c.240C>T (p.Tyr80=) rs145373371 0.00021
NM_001109878.2(TBX22):c.1544C>A (p.Ala515Glu) rs201336957 0.00020
NM_001109878.2(TBX22):c.459-5T>A rs200060292 0.00020
NM_001109878.2(TBX22):c.302T>A (p.Leu101Gln) rs137989876 0.00017
NM_001109878.2(TBX22):c.*533A>T rs770782241 0.00013
NM_001109878.2(TBX22):c.1169C>A (p.Ala390Asp) rs141303126 0.00011
NM_001109878.2(TBX22):c.864-11C>T rs771601265 0.00008
NM_001109878.2(TBX22):c.554C>T (p.Ser185Leu) rs765734398 0.00002
NM_001109878.2(TBX22):c.*293T>C rs1259520333 0.00001
NM_001109878.2(TBX22):c.549C>G (p.Pro183=) rs146024976 0.00001
NM_001109878.2(TBX22):c.*57A>T rs1057515991
NM_001109878.2(TBX22):c.-2-7C>A rs185298778
NM_001109878.2(TBX22):c.-2-7C>G rs185298778
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) rs1923753821
NM_001109878.2(TBX22):c.166G>T (p.Glu56Ter) rs104894945
NM_001109878.2(TBX22):c.224G>T (p.Gly75Val) rs1923802331
NM_001109878.2(TBX22):c.352G>T (p.Gly118Cys) rs104894944
NM_001109878.2(TBX22):c.452G>T (p.Arg151Leu) rs368136178
NM_001109878.2(TBX22):c.539C>T (p.Pro180Leu)
NM_001109878.2(TBX22):c.584_586dup (p.Ser195_Phe196insCys) rs1602410858
NM_001109878.2(TBX22):c.592C>T (p.Arg198Cys) rs776905471
NM_001109878.2(TBX22):c.633+1G>A rs1602410916
NM_001109878.2(TBX22):c.641T>C (p.Leu214Pro) rs104894946
NM_001109878.2(TBX22):c.667del (p.Arg223fs)
NM_001109878.2(TBX22):c.668G>A (p.Arg223Gln)
NM_001109878.2(TBX22):c.779C>T (p.Thr260Met) rs104894943
NM_001109878.2(TBX22):c.790A>T (p.Asn264Tyr) rs28935177
NM_001109878.2(TBX22):c.863+1G>C rs1602411954

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