ClinVar Miner

List of variants reported as uncertain significance 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: 16
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HGVS dbSNP gnomAD frequency
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.*97C>A rs757571902 0.00053
NM_001109878.2(TBX22):c.1544C>A (p.Ala515Glu) rs201336957 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.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.1412C>T (p.Ser471Phe) rs1057515990
NM_001109878.2(TBX22):c.143G>A (p.Arg48Lys) rs1923753821
NM_001109878.2(TBX22):c.224G>T (p.Gly75Val) rs1923802331
NM_001109878.2(TBX22):c.452G>T (p.Arg151Leu) rs368136178
NM_001109878.2(TBX22):c.592C>T (p.Arg198Cys) rs776905471

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