ClinVar Miner

List of variants reported as pathogenic for Mitochondrial DNA depletion syndrome 1 by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001953.5(TYMP):c.628A>C (p.Ser210Arg)	rs761665644	0.00001
NM_001953.5(TYMP):c.763_765del (p.Leu255del)	rs1556488264

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