ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 4 by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys) rs150966634 0.00001
NM_007103.4(NDUFV1):c.1118T>C (p.Phe373Ser) rs1135402749
NM_007103.4(NDUFV1):c.797dup (p.Arg267fs) rs2134085151

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