ClinVar Miner

List of variants studied for cleft palate by OMIM

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_001109878.2(TBX22):c.1252del (p.Val418fs) rs1602414282
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.953G>A (p.Arg318His) rs121908840
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
TP63, 1-BP DEL, 1709A
TP63, 1-BP DEL, 1783C
TP63, 1-BP DEL, 1859A
TP63, 11-BP DUP, NT1716

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