List of variants reported as pathogenic for Leigh syndrome by Invitae

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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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