ClinVar Miner

List of variants reported as pathogenic for cleft palate

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_001109878.2(TBX22):c.1252del (p.Val418fs) rs1602414282
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_006147.4(IRF6):c.16C>T (p.Arg6Cys) rs28942094
NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_152424.4(AMER1):c.1489del (p.Arg497fs) rs1602067592
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

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