ClinVar Miner

List of variants in gene combination LOC130067866, TYMP reported as uncertain significance for Mitochondrial DNA depletion syndrome 1

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001953.5(TYMP):c.-84T>C rs560027665 0.00007
NM_001953.5(TYMP):c.-92C>T rs886057636 0.00003
NM_001257988.1(TYMP):c.-185C>G rs886057637
NM_001953.5(TYMP):c.-20C>T rs1040337014

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