List of variants reported as likely pathogenic for mitochondrial DNA depletion syndrome by Mendelics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala)	rs1057519447	0.00001
NM_001278716.2(FBXL4):c.1673G>A (p.Cys558Tyr)	rs995995791
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del)	rs267607264
NM_003850.3(SUCLA2):c.91-10A>G	rs754813556
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val)	rs1011464708
NM_080916.3(DGUOK):c.287T>C (p.Leu96Pro)	rs587780587
NM_080916.3(DGUOK):c.707+2T>G	rs1573582059

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