ClinVar Miner

List of variants reported as uncertain significance for Mitochondrial complex I deficiency by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 5
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HGVS dbSNP
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His) rs747359752
NM_007103.4(NDUFV1):c.731A>T (p.Asn244Ile) rs1235686151
NM_014049.5(ACAD9):c.959-3C>G rs1553731751
NM_016013.4(NDUFAF1):c.901A>T (p.Ile301Phe) rs759274620
NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser) rs1555065162

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