ClinVar Miner

List of variants reported as pathogenic for cleft palate with or without ankyloglossia, X-linked by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001109878.2(TBX22):c.1252del (p.Val418fs) rs1602414282
NM_001109878.2(TBX22):c.166G>T (p.Glu56Ter) rs104894945
NM_001109878.2(TBX22):c.352G>T (p.Gly118Cys) rs104894944
NM_001109878.2(TBX22):c.584_586dup (p.Ser195_Phe196insCys) rs1602410858
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.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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