ClinVar Miner

List of variants in gene NDUFV1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_007103.4(NDUFV1):c.1075C>T (p.Arg359Cys) rs142499054 0.00055
NM_007103.4(NDUFV1):c.1079C>T (p.Ser360Leu) rs372208500 0.00006
NM_007103.4(NDUFV1):c.249G>A (p.Ser83=) rs773832212 0.00006
NM_007103.4(NDUFV1):c.970A>G (p.Thr324Ala) rs367890461 0.00001
NM_007103.4(NDUFV1):c.56G>C (p.Arg19Pro) rs1064797158
NM_007103.4(NDUFV1):c.862G>A (p.Val288Met) rs1591111059

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