List of variants in gene IBA57 reported as likely pathogenic for Multiple mitochondrial dysfunctions syndrome 3

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001010867.4(IBA57):c.316A>G (p.Thr106Ala)	rs1053773776	0.00003
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp)	rs1298056442	0.00001
NM_001010867.4(IBA57):c.754G>A (p.Gly252Ser)	rs1571918954	0.00001
NM_001010867.3(IBA57):c.[167G>A];[826C>T]
NM_001010867.4(IBA57):c.24del (p.Gly9fs)	rs2527899567
NM_001010867.4(IBA57):c.310G>T (p.Gly104Cys)	rs936626275
NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser)	rs781627051
NM_001010867.4(IBA57):c.678A>G (p.Gln226=)	rs876657407

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