ClinVar Miner

List of variants in gene NDUFS7 studied for Leigh syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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NM_024407.5(NDUFS7):c.*16C>T rs573586959
NM_024407.5(NDUFS7):c.*3_*5CCG[4] rs3065757
NM_024407.5(NDUFS7):c.*3_*5CCG[5] rs3065757
NM_024407.5(NDUFS7):c.*8G>A rs756081375
NM_024407.5(NDUFS7):c.138G>A (p.Leu46=) rs147710123
NM_024407.5(NDUFS7):c.153C>T (p.Ala51=) rs140236960
NM_024407.5(NDUFS7):c.158C>T (p.Ala53Val)
NM_024407.5(NDUFS7):c.21T>C (p.Pro7=) rs201222388
NM_024407.5(NDUFS7):c.270C>T (p.Ala90=) rs375120743
NM_024407.5(NDUFS7):c.322G>A (p.Val108Met) rs368174338
NM_024407.5(NDUFS7):c.408+10G>T rs2074896
NM_024407.5(NDUFS7):c.45T>G (p.Leu15=)
NM_024407.5(NDUFS7):c.525C>T (p.Pro175=)
NM_024407.5(NDUFS7):c.561C>A (p.Ala187=) rs144570086
NM_024407.5(NDUFS7):c.5C>T (p.Ala2Val)
NM_024407.5(NDUFS7):c.613C>G (p.Arg205Gly) rs775856806
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530

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