List of variants reported as pathogenic for orofacial cleft by OMIM

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_001202.6(BMP4):c.860G>A (p.Arg287His)	rs121912768	0.00082
NM_001202.6(BMP4):c.272C>G (p.Ser91Cys)	rs121912767	0.00018
NM_002448.3(MSX1):c.458C>A (p.Pro153Gln)	rs104893854	0.00003
NM_002448.3(MSX1):c.251A>T (p.Glu84Val)	rs28928890	0.00001
46,XX,t(2;8)(q33.1;q24.3)
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_001202.6(BMP4):c.1037C>T (p.Ala346Val)	rs121912766
NM_001202.6(BMP4):c.592C>T (p.Arg198Ter)	rs387906597
NM_002448.3(MSX1):c.365G>A (p.Gly122Glu)	rs28933081
NM_002855.5(NECTIN1):c.400C>T (p.Arg134Ter)	rs769476648
NM_002855.5(NECTIN1):c.554G>A (p.Trp185Ter)	rs104894281
NM_002855.5(NECTIN1):c.556del (p.Glu186fs)	rs876657374
NM_002855.5(NECTIN1):c.969dup (p.Thr324fs)	rs878853255
NM_003722.5(TP63):c.1054A>G (p.Arg352Gly)	rs121908847
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.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.819_820dup (p.Gln274fs)	rs1560277554
NM_003722.5(TP63):c.953G>A (p.Arg318His)	rs121908840
NM_138281.3(DLX4):c.546del (p.Gln183fs)	rs869025279

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