ClinVar Miner

List of variants reported as pathogenic for Mitochondrial complex 1 deficiency, nuclear type 28 by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_015965.7(NDUFA13):c.107T>C (p.Leu36Pro)	rs2061098856	0.00001
NM_015965.7(NDUFA13):c.170G>A (p.Arg57His)	rs752513525	0.00001
NM_015965.7(NDUFA13):c.194del (p.Phe65fs)	rs2061105702

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