List of variants in gene AFG3L2 reported as likely pathogenic for cerebellar ataxia

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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_006796.3(AFG3L2):c.2065T>C (p.Tyr689His)	rs1598820860	0.00001
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg)	rs1598832568
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)	rs727502823
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)	rs151344513
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)	rs151344514
NM_006796.3(AFG3L2):c.2012G>A (p.Gly671Glu)	rs151344518
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr)	rs797045221
NM_006796.3(AFG3L2):c.2067_2068del (p.Tyr689_Ser690delinsTer)	rs765987297

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