ClinVar Miner

List of variants reported as pathogenic for Mitochondrial complex 4 deficiency, nuclear type 4

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004589.4(SCO1):c.394G>A (p.Gly132Ser)	rs587777220	0.00001
NM_004589.4(SCO1):c.364_364+1del	rs587776629
NM_004589.4(SCO1):c.521C>T (p.Pro174Leu)	rs104894630

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