ClinVar Miner

List of variants in gene LOC129388857, LRPPRC studied for inborn mitochondrial metabolism disorder

Included ClinVar conditions (412):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_133259.4(LRPPRC):c.1649+11C>T rs200115839 0.00017
NM_133259.4(LRPPRC):c.1630C>T (p.Leu544=) rs1352013098 0.00001
NM_133259.4(LRPPRC):c.1649+8G>A rs370119141 0.00001
NM_133259.4(LRPPRC):c.1589C>A (p.Ser530Ter) rs775735922
NM_133259.4(LRPPRC):c.1612C>T (p.Gln538Ter) rs1553406772
NM_133259.4(LRPPRC):c.1623A>T (p.Arg541Ser) rs1673163352
NM_133259.4(LRPPRC):c.1649+3A>G

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