List of variants in gene combination LOC130067864, TYMP reported as pathogenic for mitochondrial DNA depletion syndrome

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001953.5(TYMP):c.215-1G>C	rs767245071	0.00004
NM_001953.5(TYMP):c.235C>T (p.Arg79Ter)	rs2069504242	0.00001
NM_001953.5(TYMP):c.228G>A (p.Met76Ile)	rs1064792859
NM_001953.5(TYMP):c.261G>C (p.Glu87Asp)	rs749827433
NM_001953.5(TYMP):c.261G>T (p.Glu87Asp)	rs749827433
NM_001953.5(TYMP):c.263_264del (p.Thr88fs)	rs1064792886
NM_001953.5(TYMP):c.275C>A (p.Thr92Asn)	rs891107196

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