ClinVar Miner

List of variants studied for Leigh syndrome by Institute of Human Genetics,Klinikum rechts der Isar

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_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.752-1G>C rs1391748504
NM_003172.4(SURF1):c.841_842CT[2] (p.Ser282fs) rs782316919
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr) rs770931871
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130
NM_004092.4(ECHS1):c.488C>T (p.Pro163Leu) rs371582393
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966
NM_004092.4(ECHS1):c.676G>A (p.Ala226Thr) rs1318391499
NM_004092.4(ECHS1):c.74G>C (p.Arg25Pro) rs1554886769
NM_004092.4(ECHS1):c.817A>G (p.Lys273Glu) rs565090080
NM_004092.4(ECHS1):c.856_857dup (p.Asn286fs) rs1554885530

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