List of variants in gene TK2 reported as likely pathogenic for hereditary skeletal muscle disorder

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_004614.5(TK2):c.415G>A (p.Ala139Thr)	rs138479499	0.00013
NM_004614.5(TK2):c.441del (p.Tyr148fs)	rs768548319	0.00002
NM_004614.5(TK2):c.191C>T (p.Thr64Met)	rs281865487	0.00001
NM_004614.5(TK2):c.659T>C (p.Leu220Pro)	rs1168827071	0.00001
NM_004614.5(TK2):c.544del (p.Leu182fs)
NM_004614.5(TK2):c.623A>G (p.Tyr208Cys)	rs1964523180

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