ClinVar Miner

List of variants in gene NDUFS8 studied for Leigh syndrome

Included ClinVar conditions (11):
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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) rs144125742 0.00475
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938 0.00205
NM_002496.4(NDUFS8):c.459C>T (p.Cys153=) rs149201273 0.00100
NM_002496.4(NDUFS8):c.19C>A (p.Pro7Thr) rs142658611 0.00081
NM_002496.4(NDUFS8):c.*44C>T rs201815115 0.00040
NM_002496.4(NDUFS8):c.200-14C>T rs373128833 0.00038
NM_002496.4(NDUFS8):c.502-13C>T rs199793417 0.00022
NM_002496.4(NDUFS8):c.502-10C>T rs369961682 0.00007
NM_002496.4(NDUFS8):c.597C>T (p.Ile199=) rs1804688 0.00006
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) rs578145610 0.00006
NM_002496.4(NDUFS8):c.199+5G>A rs373522607 0.00005
NM_002496.4(NDUFS8):c.5G>A (p.Arg2His) rs139334907 0.00005
NM_002496.4(NDUFS8):c.64C>T (p.Pro22Ser) rs369602258 0.00003
NM_002496.4(NDUFS8):c.*26T>G rs886048592 0.00001
NM_002496.4(NDUFS8):c.133G>A (p.Glu45Lys) rs764943259 0.00001
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu) rs28939679 0.00001
NM_002496.4(NDUFS8):c.299C>T (p.Ala100Val) rs748754134 0.00001
NM_002496.4(NDUFS8):c.343A>G (p.Lys115Glu) rs764276946 0.00001
NM_002496.4(NDUFS8):c.501+12C>G rs372004236 0.00001
NM_002496.4(NDUFS8):c.574G>A (p.Gly192Arg) rs1371377502 0.00001
NM_002496.4(NDUFS8):c.199+15T>G rs3115545
NM_002496.4(NDUFS8):c.269C>T (p.Pro90Leu) rs746246241
NM_002496.4(NDUFS8):c.441G>C (p.Met147Ile) rs1267554976
NM_002496.4(NDUFS8):c.484G>A (p.Val162Met) rs1277027467
NM_002496.4(NDUFS8):c.53G>T (p.Arg18Leu) rs201017561

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