List of variants in gene combination LOC130067862, SCO2, TYMP reported as likely 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)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001953.5(TYMP):c.1001T>G (p.Leu334Arg)	rs1251044974	0.00001
NM_001953.5(TYMP):c.1300+1G>A	rs1064792878	0.00001
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter)	rs765023287
NM_001953.5(TYMP):c.1085C>A (p.Ser362Ter)
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp)	rs1064792873
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del)	rs786205098
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del)	rs1027855768
NM_001953.5(TYMP):c.1301-1G>A	rs773785934
NM_001953.5(TYMP):c.1308dup (p.Trp437fs)	rs1471478620

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