List of variants in gene TK2 reported as pathogenic for Mitochondrial DNA depletion syndrome, myopathic form

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_004614.5(TK2):c.361C>A (p.His121Asn)	rs137854429	0.00016
NM_004614.5(TK2):c.323C>T (p.Thr108Met)	rs137854431	0.00013
NM_004614.5(TK2):c.388C>T (p.Arg130Trp)	rs281865493	0.00008
NM_004614.5(TK2):c.268C>T (p.Arg90Cys)	rs281865489	0.00001
NM_004614.4:c.-270+2561delins;7287-7335inv
NM_004614.5(TK2):c.129_132del (p.Lys43fs)	rs281865500
NM_004614.5(TK2):c.144_145del (p.Lys50fs)	rs1454450104
NM_004614.5(TK2):c.159C>G (p.Ile53Met)	rs137854432
NM_004614.5(TK2):c.328C>T (p.Gln110Ter)	rs1965109135
NM_004614.5(TK2):c.372_373delinsCT (p.Gln125Ter)	rs886039669
NM_004614.5(TK2):c.414C>A (p.Ser138Arg)	rs773566302
NM_004614.5(TK2):c.547C>T (p.Arg183Trp)	rs137886900
NM_004614.5(TK2):c.557C>G (p.Pro186Arg)
NM_004614.5(TK2):c.635T>A (p.Ile212Asn)	rs137854430
NM_004614.5(TK2):c.692C>T (p.Pro231Leu)	rs2144339570
NM_004614.5(TK2):c.8dup (p.Trp4fs)	rs281865502

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