ClinVar Miner

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

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Total variants: 3
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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.547C>T (p.Arg183Trp) rs137886900

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