ClinVar Miner

List of variants studied for Mitochondrial complex 4 deficiency, nuclear type 4 by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004589.4(SCO1):c.868A>G (p.Ile290Val) rs139771078 0.00058
NM_004589.4(SCO1):c.10C>G (p.Leu4Val)
NM_004589.4(SCO1):c.563-11CT[2]
NM_004589.4(SCO1):c.722A>G (p.Tyr241Cys)

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