ClinVar Miner

List of variants in gene FDXR studied for fatal multiple mitochondrial dysfunctions syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp) rs760345680 0.00002
NM_024417.5(FDXR):c.178-86C>T
NM_024417.5(FDXR):c.332T>C (p.Val111Ala)
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp) rs752675360
NM_024417.5(FDXR):c.564_575del (p.Leu189_Ala192del)
NM_024417.5(FDXR):c.578G>A (p.Arg193His)
NM_024417.5(FDXR):c.929del (p.Ser310fs) rs1598515363
c.1002+1G-A

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