List of variants in gene DHODH reported as pathogenic for multiple congenital anomalies/dysmorphic syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys)	rs201230446	0.00054
NM_001361.5(DHODH):c.454G>A (p.Gly152Arg)	rs267606766	0.00006
NM_001361.5(DHODH):c.605G>A (p.Gly202Asp)	rs267606767	0.00004
NM_001361.5(DHODH):c.595C>T (p.Arg199Cys)	rs267606769	0.00003
NM_001361.5(DHODH):c.730C>T (p.Arg244Trp)	rs267606768	0.00001
NM_001361.5(DHODH):c.248_261del (p.Leu83fs)	rs776973679
NM_001361.5(DHODH):c.56G>A (p.Gly19Glu)	rs267606765
NM_001361.5(DHODH):c.605G>C (p.Gly202Ala)	rs267606767
NM_001361.5(DHODH):c.611del (p.Leu204fs)	rs1215488320

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