ClinVar Miner

List of variants in gene combination LOC126861242, NDUFV1 reported as uncertain significance for Mitochondrial complex 1 deficiency, nuclear type 4

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp) rs145602077 0.00031
NM_007103.4(NDUFV1):c.1378C>T (p.Arg460Trp) rs372047256 0.00009
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) rs1127511 0.00008
NM_007103.4(NDUFV1):c.1087A>G (p.Ile363Val) rs200270653 0.00001
NM_007103.4(NDUFV1):c.1288G>A (p.Gly430Arg) rs776298670 0.00001

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