ClinVar Miner

List of variants reported as pathogenic for Miller syndrome by OMIM

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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.1036C>T (p.Arg346Trp) rs201947120 0.00016
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.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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