List of variants studied for Leigh syndrome by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_003172.4(SURF1):c.752-1G>C	rs1391748504	0.00001
NM_002495.4(NDUFS4):c.178-2A>G	rs1554059248
NM_002495.4(NDUFS4):c.470_471del (p.Lys156_Ser157insTer)	rs1554062427
NM_002496.4(NDUFS8):c.441G>C (p.Met147Ile)	rs1267554976
NM_003172.4(SURF1):c.845_846del (p.Ser282fs)	rs782316919

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