ClinVar Miner

List of variants in gene NDUFV1 studied for Leigh syndrome

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=) rs11227859 0.05117
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=) rs10896187 0.05020
NM_007103.4(NDUFV1):c.326+12G>A rs184136353 0.00588
NM_007103.4(NDUFV1):c.150C>T (p.Asp50=) rs11540012 0.00143
NM_007103.4(NDUFV1):c.72+15G>T rs187400726 0.00109
NM_007103.4(NDUFV1):c.819C>T (p.Thr273=) rs150859374 0.00093
NM_007103.4(NDUFV1):c.597C>T (p.Arg199=) rs151104852 0.00087
NM_007103.4(NDUFV1):c.366G>A (p.Pro122=) rs140445386 0.00083
NM_007103.4(NDUFV1):c.563G>A (p.Gly188Asp) rs142982022 0.00064
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys) rs142499054 0.00055
NM_007103.4(NDUFV1):c.155+12C>T rs199963966 0.00039
NM_007103.4(NDUFV1):c.831C>T (p.Asn277=) rs139299777 0.00022
NM_007103.4(NDUFV1):c.700+12C>T rs200417926 0.00020
NM_007103.4(NDUFV1):c.205C>T (p.Leu69=) rs199543483 0.00019
NM_007103.4(NDUFV1):c.446T>C (p.Met149Thr) rs143216424 0.00010
NM_007103.4(NDUFV1):c.800G>A (p.Arg267Lys) rs141400889 0.00010
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val) rs121913660 0.00006
NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu) rs372208500 0.00006
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) rs755312472 0.00003
NM_007103.4(NDUFV1):c.843T>C (p.His281=) rs766555879 0.00003
NM_007103.4(NDUFV1):c.1080G>A (p.Ser360=) rs201992354 0.00002
NM_007103.4(NDUFV1):c.175C>T (p.Arg59Ter) rs768050261 0.00002
NM_007103.4(NDUFV1):c.1017C>T (p.Phe339=) rs371426372 0.00001
NM_007103.4(NDUFV1):c.101C>T (p.Ser34Leu) rs201727252 0.00001
NM_007103.4(NDUFV1):c.414G>T (p.Leu138=) rs148461900 0.00001
NM_007103.4(NDUFV1):c.530A>G (p.Tyr177Cys) rs551603121 0.00001
NM_007103.4(NDUFV1):c.606G>A (p.Gly202=) rs886048589 0.00001
NM_007103.4(NDUFV1):c.640G>A (p.Glu214Lys) rs121913661 0.00001
NC_000011.9:g.(67377107_67377851)_(67380013_?)del
NC_000011.9:g.(67378042_67378465)_(67380013_?)del
NM_007103.3(NDUFV1):c.-159G>T rs1387676031
NM_007103.4(NDUFV1):c.218C>T (p.Pro73Leu) rs886048587
NM_007103.4(NDUFV1):c.333G>T (p.Lys111Asn) rs886048588
NM_007103.4(NDUFV1):c.432G>T (p.Val144=) rs144087607
NM_007103.4(NDUFV1):c.499del (p.Ser167fs)
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu) rs573896386
NM_007103.4(NDUFV1):c.929G>T (p.Gly310Val) rs1432435322

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