ClinVar Miner

List of variants reported as pathogenic for Leigh syndrome by OMIM

Included ClinVar conditions (12):
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ClinVar version:
Total variants: 28
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HGVS dbSNP
LRPPRC, 8-BP DEL, EXON 35
NM_004092.4(ECHS1):c.176A>G (p.Asn59Ser) rs201865375
NM_004092.4(ECHS1):c.229G>C (p.Glu77Gln)
NM_004092.4(ECHS1):c.2T>G (p.Met1Arg) rs587776497
NM_004092.4(ECHS1):c.413C>T (p.Ala138Val) rs864309656
NM_004092.4(ECHS1):c.414+3G>C rs786204002
NM_004092.4(ECHS1):c.473C>A (p.Ala158Asp) rs786204001
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala) rs557128093
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser) rs761989177
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val) rs587776498
NM_004092.4(ECHS1):c.713C>T (p.Ala238Val)
NM_015697.8(COQ2):c.1197del (p.Asn401fs) rs750710187
NM_015697.8(COQ2):c.437G>A (p.Ser146Asn) rs121918233
NM_015697.8(COQ2):c.590G>A (p.Arg197His) rs121918231
NM_015697.8(COQ2):c.683A>G (p.Asn228Ser) rs121918232
NM_015697.8(COQ2):c.890A>G (p.Tyr297Cys) rs121918230
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu) rs118203956
NM_020381.4(PDSS2):c.964C>T (p.Gln322Ter) rs118203955
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val) rs119466000
NM_133259.4(LRPPRC):c.1582+7A>G rs863225446
NM_133259.4(LRPPRC):c.2595_2597del (p.Val866del) rs863225444
NM_133259.4(LRPPRC):c.2723_2725AGA[1] (p.Lys909del) rs863225445
NM_133259.4(LRPPRC):c.3147dup (p.Gly1050fs) rs769022521
NM_133259.4(LRPPRC):c.3900+1G>C rs863225443
m.1624C>T rs199476144
m.5537_5538insT rs199474672
m.8344A>G rs118192098

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