ClinVar Miner

List of variants studied for Leigh syndrome by Integrated Genetics/Laboratory Corporation of America

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) rs121908577
NM_002495.4(NDUFS4):c.462del (p.Lys154fs) rs587776949
NM_002495.4(NDUFS4):c.99-1G>A rs376281345
NM_003172.4(SURF1):c.106+1G>C rs863224926
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) rs1554768333
NM_003172.4(SURF1):c.751C>T (p.Gln251Ter) rs121918657
NM_003172.4(SURF1):c.756_757CA[1] (p.Thr253fs) rs782349178
NM_003172.4(SURF1):c.790_791AG[1] (p.Arg264fs) rs782490558
NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs) rs782316919
NM_004376.6(COX15):c.452C>G (p.Ser151Ter) rs149718203
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_174889.5(NDUFAF2):c.221G>A (p.Trp74Ter) rs772294726

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