List of variants reported as likely pathogenic for Mitochondrial DNA depletion syndrome 1 by Revvity Omics, Revvity

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001953.5(TYMP):c.622G>A (p.Val208Met)	rs121913039	0.00027
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)	rs121913037	0.00007
NM_001953.5(TYMP):c.647C>T (p.Ala216Val)	rs1064792855	0.00001
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer)	rs764792655
NM_001953.5(TYMP):c.809T>C (p.Leu270Pro)	rs1178421926

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