ClinVar Miner

List of variants studied for Mitochondrial complex 1 deficiency, nuclear type 5 by Illumina Laboratory Services, Illumina

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005006.7(NDUFS1):c.683T>C (p.Val228Ala) rs370411488 0.00012
NM_005006.7(NDUFS1):c.1554-1G>A rs1056433452 0.00001
NM_005006.7(NDUFS1):c.737+1G>A rs935776676

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