ClinVar Miner

List of variants in gene NDUFAF2 reported as uncertain significance for Leigh syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_174889.4(NDUFAF2):c.-110A>C rs886060723
NM_174889.4(NDUFAF2):c.-21_-20dupGC rs886060725
NM_174889.4(NDUFAF2):c.-63G>T rs886060724
NM_174889.4(NDUFAF2):c.-66G>C rs376045901
NM_174889.4(NDUFAF2):c.128-14C>G rs537327206
NM_174889.4(NDUFAF2):c.196G>C (p.Asp66His) rs769579395
NM_174889.4(NDUFAF2):c.414T>A (p.Phe138Leu) rs770172045
NM_174889.4(NDUFAF2):c.422A>T (p.Glu141Val) rs749677218
NM_174889.4(NDUFAF2):c.462T>C (p.Phe154=) rs77878573
NM_174889.4(NDUFAF2):c.98A>G (p.Tyr33Cys) rs779872068

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