ClinVar Miner

List of variants reported as pathogenic for Leigh syndrome by Invitae

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_003172.3(SURF1):c.-11_13del24 rs863224229
NM_003172.3(SURF1):c.312_321delTCTGCCAGCCinsAT (p.Leu105Terfs) rs863224228
NM_003172.3(SURF1):c.32_38dup (p.Leu16Glyfs) rs1410388157
NM_003172.3(SURF1):c.574C>T (p.Arg192Trp) rs782190413
NM_003172.3(SURF1):c.688C>T (p.Arg230Ter) rs782623477
NM_003172.3(SURF1):c.792_793delAG (p.Arg264Serfs) rs782490558
NM_003172.3(SURF1):c.845_846delCT (p.Ser282Cysfs) rs782316919

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