ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 5 by Revvity Omics, Revvity

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005006.7(NDUFS1):c.1330C>T (p.His444Tyr) rs373339826 0.00006
NM_005006.7(NDUFS1):c.993G>T (p.Gln331His) rs145401558 0.00002
NM_005006.7(NDUFS1):c.1183G>A (p.Glu395Lys) rs1356892913 0.00001
NM_005006.7(NDUFS1):c.1119dup (p.Thr374fs) rs757522804
NM_005006.7(NDUFS1):c.1810C>T (p.Gln604Ter) rs2105945363
NM_005006.7(NDUFS1):c.578A>G (p.Asp193Gly) rs2470064710
NM_005006.7(NDUFS1):c.580G>T (p.Asp194Tyr) rs62195386

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