ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 17 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_152416.4(NDUFAF6):c.532G>C (p.Ala178Pro) rs201088736 0.00004
NM_152416.4(NDUFAF6):c.420+784C>T rs749738738 0.00002
NM_152416.4(NDUFAF6):c.967del (p.Tyr323fs)

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