ClinVar Miner

List of variants in gene DHODH reported as pathogenic for acrofacial dysostosis

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_001361.5(DHODH):c.1036C>T (p.Arg346Trp) rs201947120
NM_001361.5(DHODH):c.403C>T (p.Arg135Cys) rs201230446
NM_001361.5(DHODH):c.454G>A (p.Gly152Arg) rs267606766
NM_001361.5(DHODH):c.56G>A (p.Gly19Glu) rs267606765
NM_001361.5(DHODH):c.595C>T (p.Arg199Cys) rs267606769
NM_001361.5(DHODH):c.605G>A (p.Gly202Asp) rs267606767
NM_001361.5(DHODH):c.605G>C (p.Gly202Ala) rs267606767
NM_001361.5(DHODH):c.611del (p.Leu204fs) rs1215488320
NM_001361.5(DHODH):c.730C>T (p.Arg244Trp) rs267606768

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