ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 2

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_002496.4(NDUFS8):c.59-22C>G rs3133266 0.97614
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938 0.00205
NM_002496.4(NDUFS8):c.305G>A (p.Arg102His) rs121912638 0.00004
NM_002496.4(NDUFS8):c.229C>T (p.Arg77Trp) rs146766138 0.00002
NM_002496.4(NDUFS8):c.187G>C (p.Glu63Gln) rs397514618 0.00001
NM_002496.4(NDUFS8):c.236C>T (p.Pro79Leu) rs28939679 0.00001
NM_002496.4(NDUFS8):c.413G>A (p.Arg138His) rs111033588 0.00001
NM_002496.4(NDUFS8):c.460G>A (p.Gly154Ser) rs143337739 0.00001
NM_002496.4(NDUFS8):c.160C>T (p.Arg54Trp)
NM_002496.4(NDUFS8):c.170G>C (p.Arg57Pro)
NM_002496.4(NDUFS8):c.199+15T>G rs3115545
NM_002496.4(NDUFS8):c.254C>T (p.Pro85Leu) rs121912639
NM_002496.4(NDUFS8):c.307C>T (p.Arg103Trp)
NM_002496.4(NDUFS8):c.325G>A (p.Glu109Lys)
NM_002496.4(NDUFS8):c.329G>A (p.Arg110His)
NM_002496.4(NDUFS8):c.367G>T (p.Ala123Ser)
NM_002496.4(NDUFS8):c.372+1G>A
NM_002496.4(NDUFS8):c.384C>G (p.Ile128Met) rs371659063
NM_002496.4(NDUFS8):c.476C>A (p.Ala159Asp) rs397514617
NM_002496.4(NDUFS8):c.499G>A (p.Glu167Lys)
NM_002496.4(NDUFS8):c.501+5G>A
NM_002496.4(NDUFS8):c.585G>A (p.Trp195Ter) rs2134419114

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