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

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)	rs121913037	0.00007
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala)	rs121913036	0.00005
NM_001953.5(TYMP):c.1160-1G>A	rs797044455	0.00004
NM_001953.5(TYMP):c.215-1G>C	rs767245071	0.00004
NM_001953.5(TYMP):c.1159+1G>A	rs1044840059	0.00003
NM_001953.5(TYMP):c.646+1G>A	rs760629248	0.00002
NM_001953.5(TYMP):c.1300+1G>A	rs1064792878	0.00001
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser)	rs121913038	0.00001
NM_001953.5(TYMP):c.929-1G>A	rs1180285291	0.00001
NM_001953.5(TYMP):c.112G>T (p.Glu38Ter)	rs1054084896
NM_001953.5(TYMP):c.1159+2T>A	rs770277446
NM_001953.5(TYMP):c.417+1G>A	rs1603442040

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