List of variants studied for Leigh syndrome by Mendelics

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=)	rs31304	0.96579
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys)	rs35462421	0.00570
NM_017547.4(FOXRED1):c.1190C>G (p.Ala397Gly)	rs201727988	0.00004
NM_005006.7(NDUFS1):c.1235C>T (p.Pro412Leu)	rs751150787	0.00003
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys)	rs755312472	0.00003
NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln)	rs776114731	0.00001
NM_003172.4(SURF1):c.11_27dup (p.Gly10fs)	rs1588693841
NM_003172.4(SURF1):c.236G>A (p.Trp79Ter)	rs1244071473
NM_005006.7(NDUFS1):c.1393-7_1393-3del	rs1559047521
NM_005006.7(NDUFS1):c.154-126TAGA[8]	rs3217140
NM_005006.7(NDUFS1):c.154-126TAGA[9]	rs3217140
NM_005006.7(NDUFS1):c.518T>G (p.Met173Arg)	rs747249702
NM_005006.7(NDUFS1):c.689C>A (p.Ala230Asp)	rs1575984450
NM_007103.4(NDUFV1):c.1129G>T (p.Glu377Ter)	rs1591111808
NM_007103.4(NDUFV1):c.1207dup (p.Asp403fs)	rs766830864
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr)	rs200686732

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