ClinVar Miner

List of variants reported as benign for Mitochondrial DNA depletion syndrome, myopathic form

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_004614.5(TK2):c.-38A>G rs3743716 0.25659
NM_004614.5(TK2):c.619-53A>G rs2241619 0.13547
NM_004614.5(TK2):c.*2221T>C rs3743712 0.13149
NM_004614.5(TK2):c.*765T>C rs880530 0.13122
NM_004614.5(TK2):c.700-13G>A rs16956600 0.11082
NM_004614.5(TK2):c.*2914C>T rs3743711 0.06117
NM_004614.5(TK2):c.156+15T>C rs80083556 0.06072
NM_004614.5(TK2):c.*3786C>T rs74451221 0.04842
NM_004614.5(TK2):c.*2419C>T rs74372298 0.02586
NM_004614.5(TK2):c.449+14A>C rs144627957 0.00674
NM_004614.5(TK2):c.94C>T (p.Arg32Trp) rs200121712 0.00636
NM_004614.5(TK2):c.*2450A>G rs35138698 0.00395
NM_004614.5(TK2):c.*1959G>A rs145016391 0.00313
NM_004614.5(TK2):c.157-12G>A rs117229729 0.00128
NM_004614.5(TK2):c.576G>A (p.Arg192=) rs146963943 0.00055
NM_004614.5(TK2):c.-30C>G rs3743715

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