ClinVar Miner

List of variants in gene NDUFV1 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val) rs121913660 0.00006
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu) rs750831299 0.00002
NC_000011.9:g.(67377107_67377851)_(67380013_?)del
NC_000011.9:g.(67378042_67378465)_(67380013_?)del
NM_007103.4(NDUFV1):c.155+1G>A rs1565224383

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