ClinVar Miner

List of variants in gene combination LOC130067862, SCO2, TYMP reported as pathogenic for Mitochondrial neurogastrointestinal encephalomyopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001953.5(TYMP):c.1160-1G>A	rs797044455	0.00004
NM_001953.5(TYMP):c.1300+1G>A	rs1064792878	0.00001

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