ClinVar Miner

List of variants reported as pathogenic for Mitochondrial DNA depletion syndrome 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala)	rs121913036	0.00005
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser)	rs121913038	0.00001
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer)	rs764792655

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