List of variants in gene SUCLA2 reported as pathogenic for Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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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.(?_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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