List of variants reported as pathogenic for cleft lip/palate

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 13

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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)
NC_000014.8:g.(?_54416336)_54418690del
NC_000014.8:g.(?_54416750)_(55369403_?)del
NM_001202.6(BMP4):c.1037C>T (p.Ala346Val)	rs121912766
NM_001202.6(BMP4):c.205_214del (p.Arg69fs)	rs2140238013
NM_001202.6(BMP4):c.592C>T (p.Arg198Ter)	rs387906597
NM_002448.3(MSX1):c.365G>A (p.Gly122Glu)	rs28933081
NM_002448.3(MSX1):c.519_525dup (p.Arg176Ter)	rs2108778592
NM_138281.3(DLX4):c.546del (p.Gln183fs)	rs869025279

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