ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome, myopathic form by GeneReviews

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Total variants: 7
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HGVS dbSNP gnomAD frequency
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_001040138.2(CKLF):c.-7863_-2035delins[AC010542.7:g.65062_65110]
NM_004614.4:c.-270+2561delins;7287-7335inv
NM_004614.5(TK2):c.547C>T (p.Arg183Trp) rs137886900
NM_004614.5(TK2):c.575G>A (p.Arg192Lys) rs281865496
NM_004614.5(TK2):c.604_606del (p.Lys202del) rs281865501

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