List of variants studied for mitochondrial DNA depletion syndrome by MGZ Medical Genetics Center

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	rs113994097	0.00081
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	rs113994095	0.00068
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)	rs375401970	0.00008
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)	rs121913037	0.00007
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)	rs267607258	0.00006
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu)	rs267606959	0.00002
NM_001080449.3(DNA2):c.876C>A (p.Tyr292Ter)
NM_001953.5(TYMP):c.752T>C (p.Leu251Pro)
NM_002693.3(POLG):c.3482+2T>C	rs1466226819
NM_002693.3(POLG):c.3483-6T>C
NM_004614.5(TK2):c.124+3A>G
NM_080916.3(DGUOK):c.707+3_707+6del

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