List of variants in gene TK2 studied for Mitochondrial DNA depletion syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_004614.5(TK2):c.*1758del	rs886052196	0.00041
NM_004614.5(TK2):c.*2122G>A	rs193271947	0.00021
NM_004614.5(TK2):c.415G>A (p.Ala139Thr)	rs138479499	0.00013
NM_004614.5(TK2):c.416C>T (p.Ala139Val)	rs281865494	0.00008
NM_004614.5(TK2):c.156+2T>C	rs281865499	0.00003
NM_004614.5(TK2):c.268C>T (p.Arg90Cys)	rs281865489	0.00001
NM_004614.5(TK2):c.*1591dup	rs886052201
NM_004614.5(TK2):c.1739_1740insC	rs886052197
NM_004614.5(TK2):c.1756_1757dup	rs34931863
NM_004614.5(TK2):c.1758_1759insT	rs886052195
NM_004614.5(TK2):c.1758_1759insTT	rs886052195
NM_004614.5(TK2):c.360_361delinsAA (p.His121Asn)	rs281865507
NM_004614.5(TK2):c.547C>T (p.Arg183Trp)	rs137886900
NM_004614.5(TK2):c.604_606del (p.Lys202del)	rs281865501

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