ClinVar Miner

List of variants in gene FDXR studied for Inborn genetic diseases

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_024417.5(FDXR):c.916C>T (p.Arg306Cys) rs752143061 0.00004
NM_024417.5(FDXR):c.248C>T (p.Ala83Val) rs756882582 0.00003
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.925C>T (p.Arg309Ter) rs760030067 0.00002
NM_024417.5(FDXR):c.394-1G>C rs370799304 0.00001
NM_024417.5(FDXR):c.605T>G (p.Leu202Arg) rs754564445 0.00001
NM_024417.5(FDXR):c.1027G>A (p.Val343Met)
NM_024417.5(FDXR):c.1043T>A (p.Met348Lys)
NM_024417.5(FDXR):c.1094G>A (p.Arg365His)
NM_024417.5(FDXR):c.1150G>A (p.Glu384Lys)
NM_024417.5(FDXR):c.1210A>G (p.Thr404Ala)
NM_024417.5(FDXR):c.1309G>A (p.Gly437Ser) rs766147142
NM_024417.5(FDXR):c.1367C>G (p.Ser456Ter)
NM_024417.5(FDXR):c.151T>C (p.Phe51Leu) rs1312462458
NM_024417.5(FDXR):c.275T>A (p.Val92Asp)
NM_024417.5(FDXR):c.359C>T (p.Pro120Leu)
NM_024417.5(FDXR):c.403G>A (p.Ala135Thr)
NM_024417.5(FDXR):c.419C>T (p.Ala140Val)
NM_024417.5(FDXR):c.430C>A (p.Pro144Thr)
NM_024417.5(FDXR):c.434G>T (p.Gly145Val)
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp) rs752675360
NM_024417.5(FDXR):c.493C>T (p.Pro165Ser)
NM_024417.5(FDXR):c.538G>A (p.Val180Met)
NM_024417.5(FDXR):c.559G>A (p.Val187Met)
NM_024417.5(FDXR):c.730A>T (p.Met244Leu)
NM_024417.5(FDXR):c.743C>T (p.Pro248Leu)
NM_024417.5(FDXR):c.778_779dup (p.Leu260fs)
NM_024417.5(FDXR):c.811C>T (p.Arg271Cys)
NM_024417.5(FDXR):c.820A>G (p.Lys274Glu)
NM_024417.5(FDXR):c.856G>C (p.Glu286Gln)
NM_024417.5(FDXR):c.884G>T (p.Arg295Leu)
NM_024417.5(FDXR):c.931C>A (p.Pro311Thr)

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