ClinVar Miner

List of variants reported as uncertain significance for Leigh syndrome by Mendelics

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_017547.4(FOXRED1):c.1190C>G (p.Ala397Gly) rs201727988 0.00004
NM_005006.7(NDUFS1):c.1235C>T (p.Pro412Leu) rs751150787 0.00003
NM_005006.7(NDUFS1):c.689C>A (p.Ala230Asp) rs1575984450
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) rs200686732

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