ClinVar Miner

List of variants reported as uncertain significance for Leigh syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_001303.4(COX10):c.1027T>C (p.Cys343Arg) rs200818252
NM_001303.4(COX10):c.1061G>A (p.Arg354Gln) rs745492359
NM_001303.4(COX10):c.311C>T (p.Pro104Leu) rs202207627
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938
NM_004092.4(ECHS1):c.836T>C (p.Phe279Ser) rs1554885535
NM_004168.4(SDHA):c.1055G>A (p.Arg352Gln) rs199844384
NM_004168.4(SDHA):c.1150T>G (p.Ser384Ala) rs776888362
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe) rs377470390
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144
NM_004168.4(SDHA):c.1919A>G (p.Glu640Gly) rs372480044
NM_004168.4(SDHA):c.1973C>T (p.Pro658Leu) rs377632619
NM_004168.4(SDHA):c.445G>A (p.Ala149Thr) rs575617625
NM_004168.4(SDHA):c.448G>A (p.Val150Met) rs542980860
NM_004168.4(SDHA):c.613T>C (p.Tyr205His) rs61754481
NM_004168.4(SDHA):c.694C>T (p.Arg232Cys) rs878854635
NM_004168.4(SDHA):c.704T>C (p.Ile235Thr) rs144513891
NM_004168.4(SDHA):c.739A>G (p.Ile247Val) rs571292356
NM_004168.4(SDHA):c.812C>G (p.Thr271Ser) rs765611464
NM_004168.4(SDHA):c.902A>G (p.Tyr301Cys)
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln) rs752532780
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu) rs377509915
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr) rs200526913
NM_004168.4(SDHA):c.994C>T (p.Pro332Ser) rs373509391
NM_017547.4(FOXRED1):c.1171T>G (p.Leu391Val) rs138061928
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys) rs146661281

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