ClinVar Miner

Variants in gene TK2 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
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.441del (p.Tyr148fs) rs768548319 0.00002
NM_004614.5(TK2):c.173A>G (p.Asn58Ser) rs138439950 0.00001
NM_004614.5(TK2):c.191C>T (p.Thr64Met) rs281865487 0.00001
NM_004614.5(TK2):c.389G>A (p.Arg130Gln) rs281865492 0.00001
NM_004614.5(TK2):c.125-1_127del
NM_004614.5(TK2):c.688del (p.Ala230fs) rs2144339644

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