List of variants in gene combination ACSF3, LOC125177393 reported as uncertain significance for Combined malonic and methylmalonic acidemia

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)	rs145285434	0.00009
NM_001243279.3(ACSF3):c.1016T>C (p.Val339Ala)	rs768294145	0.00007
NM_001243279.3(ACSF3):c.1084A>T (p.Met362Leu)	rs560149696	0.00006
NM_001243279.3(ACSF3):c.1052T>C (p.Leu351Pro)	rs753012117	0.00003
NM_001243279.3(ACSF3):c.1004T>A (p.Leu335Gln)	rs1358680743	0.00001
NM_001243279.3(ACSF3):c.1013C>T (p.Pro338Leu)	rs779630954	0.00001
NM_001243279.3(ACSF3):c.1087G>A (p.Ala363Thr)	rs1184733927	0.00001
NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg)	rs142288136	0.00001
NM_001243279.3(ACSF3):c.1060C>T (p.Arg354Trp)	rs761084443
NM_001243279.3(ACSF3):c.1073C>T (p.Thr358Ile)	rs387907120
NM_001243279.3(ACSF3):c.1117C>G (p.Arg373Gly)	rs144907664
NM_001243279.3(ACSF3):c.1117C>T (p.Arg373Cys)	rs144907664
NM_001243279.3(ACSF3):c.1121T>C (p.Leu374Pro)	rs1904713918
NM_001243279.3(ACSF3):c.1126+5G>A	rs371622529
NM_001243279.3(ACSF3):c.1126+5G>C	rs371622529

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