ClinVar Miner

List of variants in gene GAMT, NDUFS7 studied for Leigh syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000156.6(GAMT):c.*276C>T rs266810 0.07427
NM_000156.6(GAMT):c.*146A>C rs659455 0.07418
NM_000156.6(GAMT):c.*151T>C rs659460 0.07383
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_000156.6(GAMT):c.*311C>G rs266811 0.06572
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_024407.5(NDUFS7):c.*13C>A rs11551663

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