List of variants in gene SUCLA2 reported as likely 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: 14

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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.1219C>T (p.Arg407Trp)	rs1233249991	0.00001
NM_003850.3(SUCLA2):c.478C>T (p.Arg160Ter)	rs1950124035	0.00001
NM_003850.3(SUCLA2):c.1108-1G>A
NM_003850.3(SUCLA2):c.1134del (p.Phe378fs)	rs2137688148
NM_003850.3(SUCLA2):c.1165C>T (p.Gln389Ter)
NM_003850.3(SUCLA2):c.1225C>T (p.Gln409Ter)	rs2137688022
NM_003850.3(SUCLA2):c.191T>C (p.Leu64Ser)	rs1950196208
NM_003850.3(SUCLA2):c.299A>C (p.Gln100Pro)	rs2137743496
NM_003850.3(SUCLA2):c.814G>C (p.Asp272His)	rs2137694642
NM_003850.3(SUCLA2):c.91-10A>G	rs754813556
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val)	rs1011464708
NM_003850.3(SUCLA2):c.997G>T (p.Asp333Tyr)	rs972696428
NM_003850.3(SUCLA2):c.998A>G (p.Asp333Gly)

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