ClinVar Miner

List of variants in gene FDXR studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_024417.5(FDXR):c.271-15C>T rs2070918 0.57101
NM_024417.5(FDXR):c.1459C>T (p.Arg487Cys) rs143458938 0.00053
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys) rs752143061 0.00004
NM_024417.5(FDXR):c.980G>A (p.Arg327His) rs752410856 0.00003
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp) rs760345680 0.00002
NM_024417.5(FDXR):c.221C>T (p.Pro74Leu) rs746953590 0.00002
NM_024417.5(FDXR):c.472G>A (p.Val158Met) rs1441084539 0.00001
NM_024417.5(FDXR):c.926G>A (p.Arg309Gln) rs948669536 0.00001
NM_024417.5(FDXR):c.1255C>T (p.Gln419Ter) rs1313895172
NM_024417.5(FDXR):c.1309G>A (p.Gly437Ser) rs766147142
NM_024417.5(FDXR):c.1429G>A (p.Glu477Lys) rs997026784
NM_024417.5(FDXR):c.1454T>C (p.Met485Thr) rs2144639559
NM_024417.5(FDXR):c.332T>C (p.Val111Ala)
NM_024417.5(FDXR):c.368del (p.Gln123fs) rs2144662023
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.619A>T (p.Ile207Phe) rs1598518754
NM_024417.5(FDXR):c.623C>T (p.Thr208Met)
NM_024417.5(FDXR):c.643C>G (p.Leu215Val) rs1555620021
NM_024417.5(FDXR):c.682C>T (p.Arg228Trp)

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