ClinVar Miner

List of variants reported as uncertain significance for Mitochondrial complex 1 deficiency, nuclear type 4 by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_007103.4(NDUFV1):c.670C>T (p.Arg224Cys)	rs138583785	0.00004
NM_007103.4(NDUFV1):c.1288G>A (p.Gly430Arg)	rs776298670	0.00001

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