ClinVar Miner

List of variants studied for Leigh syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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_133259.4(LRPPRC):c.3570-3C>T rs35113761 0.02876
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668 0.01872
NM_133259.4(LRPPRC):c.58C>T (p.Leu20Phe) rs184339274 0.00631
NM_133259.4(LRPPRC):c.2325A>G (p.Lys775=) rs139634347 0.00249
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132

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