ClinVar Miner

List of variants reported as pathogenic for cleft palate

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_198173.3(GRHL3):c.800C>G (p.Ala267Gly) rs34593559 0.00737
NM_001109878.2(TBX22):c.459-5T>A rs200060292 0.00020
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) rs765379963 0.00002
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) rs121908835 0.00001
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter) rs771409809 0.00001
46;X;t(X;5)(p11.23;q35)dn
46;XX;ins(5;6)(p13;p24p25)dn
NM_001080517.3(SETD5):c.2168dup (p.Leu723fs) rs2042262374
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
NM_001110556.2(FLNA):c.620C>T (p.Pro207Leu) rs28935469
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter) rs1553547838
NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs) rs1553544133
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter) rs137853127
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
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.1827del (p.Glu609fs) rs2108873431
NM_003722.5(TP63):c.1833_1843dup (p.His615fs)
NM_003722.5(TP63):c.1900del (p.Arg634fs) rs2108874029
NM_003722.5(TP63):c.1976del (p.Asn659fs) rs2108874645
NM_003722.5(TP63):c.953G>A (p.Arg318His) rs121908840
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) rs28942094
NM_012233.3(RAB3GAP1):c.151-5T>G rs1690127143
NM_016148.5(SHANK1):c.2149C>T (p.Arg717Ter) rs2123136215
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_033419.5(PGAP3):c.851A>G (p.His284Arg) rs776720232
NM_133433.4(NIPBL):c.7459del (p.Glu2487fs) rs1554034812
NM_152424.4(AMER1):c.1489del (p.Arg497fs) rs1602067592
NM_198173.3(GRHL3):c.1172G>A (p.Arg391His) rs1315515436
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
NM_198173.3(GRHL3):c.916dup (p.Arg306fs) rs886037769

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