ClinVar Miner

List of variants reported as pathogenic for Leigh syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001257342.2(BCS1L):c.166C>T (p.Arg56Ter) rs121908576
NM_001257342.2(BCS1L):c.232A>G (p.Ser78Gly) rs28937590
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643

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