ClinVar Miner

List of variants reported as pathogenic for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_003850.3(SUCLA2):c.985A>G (p.Met329Val) rs200167311 0.00015
NM_003850.3(SUCLA2):c.348_355dup (p.Val119fs) rs1425790333 0.00001
NM_003850.3(SUCLA2):c.478C>T (p.Arg160Ter) rs1950124035 0.00001
NM_003850.3(SUCLA2):c.534+1G>A rs113994161 0.00001
NM_003850.3(SUCLA2):c.850C>T (p.Arg284Cys) rs121908538 0.00001
NC_000013.10:g.(?_48517506)_(48575405_?)del
NC_000013.10:g.(?_48517506)_(49070513_?)del
NC_000013.10:g.(?_48562656)_(48575405_?)del
NM_003850.3(SUCLA2):c.21C>G (p.Tyr7Ter)
NM_003850.3(SUCLA2):c.251dup (p.Tyr84Ter) rs1309421397
NM_003850.3(SUCLA2):c.352G>A (p.Gly118Arg) rs121908537
NM_003850.3(SUCLA2):c.371+1G>C rs985896883
NM_003850.3(SUCLA2):c.751G>A (p.Asp251Asn) rs397515462
NM_003850.3(SUCLA2):c.789_802+29delinsATAAA rs2137715433
NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val) rs1555256440
NM_003850.3(SUCLA2):c.887del (p.Gln296fs) rs1593479845
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val) rs1011464708
NM_003850.3(SUCLA2):c.964+1G>A
NM_003850.3(SUCLA2):c.998A>G (p.Asp333Gly)

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