ClinVar Miner

List of variants in gene SURF1 reported as likely pathogenic for Leigh syndrome

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_003172.3(SURF1):c.-11_13del24 rs863224229
NM_003172.3(SURF1):c.106+1G>C rs863224926
NM_003172.3(SURF1):c.631_632delGA (p.Glu211Asnfs) rs1554768333
NM_003172.3(SURF1):c.754_755delAG (p.Ser252Hisfs) rs782007828
NM_003172.3(SURF1):c.759dup (p.Val254Serfs) rs1554768246
NM_003172.4(SURF1):c.504C>A (p.Cys168Ter)

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