ClinVar Miner

List of variants in gene NDUFS7 studied for Mitochondrial complex 1 deficiency, nuclear type 3

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530 0.52046
NM_024407.5(NDUFS7):c.455+71G>A rs2074897 0.34114
NM_024407.5(NDUFS7):c.456-16G>A rs370241999 0.00024
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 0.00009
NM_024407.5(NDUFS7):c.439G>A (p.Val147Met) rs371666279 0.00004
NM_024407.5(NDUFS7):c.180C>T (p.Gly60=) rs762680917 0.00002
NM_024407.5(NDUFS7):c.415G>A (p.Asp139Asn) rs1171276645 0.00001
NM_024407.5(NDUFS7):c.434G>A (p.Arg145His) rs121434479 0.00001
NM_024407.5(NDUFS7):c.54-19G>A rs562814009 0.00001
NM_024407.5(NDUFS7):c.17-1167C>G rs1568985256
NM_024407.5(NDUFS7):c.256C>G (p.Leu86Val)
NM_024407.5(NDUFS7):c.304G>A (p.Asp102Asn)
NM_024407.5(NDUFS7):c.339_348del (p.Arg115fs)
NM_024407.5(NDUFS7):c.343_352dup (p.Asp118fs)
NM_024407.5(NDUFS7):c.345_354del (p.Gln116fs)
NM_024407.5(NDUFS7):c.408+1G>C
NM_024407.5(NDUFS7):c.520G>A (p.Val174Met)
NM_024407.5(NDUFS7):c.537C>A (p.Tyr179Ter)

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