List of variants reported as pathogenic for Leigh syndrome by Invitae

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Total variants: 12

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HGVS	dbSNP
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del)	rs863224229
NM_003172.4(SURF1):c.281dup (p.Leu94fs)	rs1588691786
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer)	rs863224228
NM_003172.4(SURF1):c.32_38dup (p.Leu16fs)	rs1410388157
NM_003172.4(SURF1):c.516-2A>G	rs782682492
NM_003172.4(SURF1):c.555_556del (p.Lys186fs)
NM_003172.4(SURF1):c.574C>T (p.Arg192Trp)	rs782190413
NM_003172.4(SURF1):c.631_632del (p.Glu211fs)	rs1554768333
NM_003172.4(SURF1):c.688C>T (p.Arg230Ter)	rs782623477
NM_003172.4(SURF1):c.790_791AG[1] (p.Arg264fs)	rs782490558
NM_003172.4(SURF1):c.815_825dup (p.Val276fs)
NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs)	rs782316919

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