ClinVar Miner

List of variants studied for fumaric aciduria by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000143.4(FH):c.583A>G (p.Met195Val) rs1553341364 0.00001
NM_000143.4(FH):c.697C>T (p.Arg233Cys) rs587781682 0.00001
NM_000143.4(FH):c.738+2T>C rs1060500901

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