ClinVar Miner

List of variants in gene FOXRED1 studied for Mitochondrial complex I deficiency, nuclear type 1

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_017547.4(FOXRED1):c.*129C>G rs594318 0.19642
NM_017547.4(FOXRED1):c.*113G>A rs667627 0.18697
NM_017547.4(FOXRED1):c.*190T>C rs77902129 0.01849
NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg) rs7116126 0.00931
NM_017547.4(FOXRED1):c.433G>A (p.Val145Ile) rs34542988 0.00827
NM_017547.4(FOXRED1):c.*432T>G rs185024577 0.00304
NM_017547.4(FOXRED1):c.124A>C (p.Lys42Gln) rs148346044 0.00301
NM_017547.3(FOXRED1):c.-163G>C rs552937899 0.00259
NM_017547.4(FOXRED1):c.*159C>T rs570233921 0.00119
NM_017547.4(FOXRED1):c.435C>T (p.Val145=) rs147235743 0.00111
NM_017547.4(FOXRED1):c.417+10A>G rs180800246 0.00103
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val) rs138061928 0.00093
NM_017547.4(FOXRED1):c.*374T>G rs576196293 0.00027
NM_017547.4(FOXRED1):c.-31A>G rs368307265 0.00013
NM_017547.3(FOXRED1):c.-151C>A rs546439717 0.00011
NM_017547.4(FOXRED1):c.1183G>T (p.Val395Phe) rs767749700 0.00011
NM_017547.4(FOXRED1):c.305C>T (p.Thr102Met) rs77785510 0.00008
NM_017547.4(FOXRED1):c.1378A>G (p.Arg460Gly) rs139086727 0.00007
NM_017547.4(FOXRED1):c.418-1G>T rs771941278 0.00007
NM_017547.4(FOXRED1):c.921G>A (p.Gly307=) rs777315728 0.00005
NM_017547.4(FOXRED1):c.*71A>G rs763886127 0.00004
NM_017547.4(FOXRED1):c.1121C>T (p.Ala374Val) rs139029287 0.00004
NM_017547.4(FOXRED1):c.296G>A (p.Arg99Gln) rs768102112 0.00004
NM_017547.4(FOXRED1):c.551A>G (p.Lys184Arg) rs368843227 0.00004
NM_017547.4(FOXRED1):c.580C>T (p.Arg194Trp) rs191604046 0.00004
NM_017547.4(FOXRED1):c.952C>T (p.Pro318Ser) rs748195712 0.00003
NM_017547.4(FOXRED1):c.1138C>G (p.His380Asp) rs751634994 0.00002
NM_017547.4(FOXRED1):c.192G>A (p.Ser64=) rs749675822 0.00002
NM_017547.4(FOXRED1):c.658C>T (p.Pro220Ser) rs753106152 0.00002
NM_017547.4(FOXRED1):c.*211T>C rs1245337651 0.00001
NM_017547.4(FOXRED1):c.*392G>A rs886047983 0.00001
NM_017547.4(FOXRED1):c.*85T>C rs372575072 0.00001
NM_017547.4(FOXRED1):c.1225G>A (p.Gly409Ser) rs1036245067 0.00001
NM_017547.4(FOXRED1):c.307-14T>C rs541684918 0.00001
NM_017547.4(FOXRED1):c.457C>T (p.Arg153Trp) rs140745629 0.00001
NM_017547.4(FOXRED1):c.537-11G>A rs199599636 0.00001
NM_017547.4(FOXRED1):c.662G>T (p.Trp221Leu) rs755831680 0.00001
NM_017547.4(FOXRED1):c.887C>T (p.Ala296Val) rs886047982 0.00001
NM_017547.4(FOXRED1):c.*93G>A rs114082966
NM_017547.4(FOXRED1):c.1020G>C (p.Pro340=) rs143739550
NM_017547.4(FOXRED1):c.1167C>T (p.Pro389=) rs560953332
NM_017547.4(FOXRED1):c.318C>T (p.Ala106=) rs1951030849
NM_017547.4(FOXRED1):c.417+6T>C rs1951035111
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017547.4(FOXRED1):c.833A>G (p.Glu278Gly) rs886047981
NM_017547.4(FOXRED1):c.857T>C (p.Ile286Thr) rs148955548

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