ClinVar Miner

List of variants studied for Leigh syndrome by Mitochondrial Research Group, Murdoch Children's Research Institute

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_023936.1(MRPS34):c.321+1G>T rs1161932777 0.00001
NM_016589.4(TIMMDC1):c.673C>T (p.Arg225Ter) rs149481081
NM_017446.4(MRPL39):c.526del (p.Ser176fs)
NM_017446.4(MRPL39):c.589-924G>A rs1209423257
NM_017446.4(MRPL39):c.921+5G>A

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