List of variants in gene AFG3L2 reported as 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln)	rs151344523	0.00001
NM_006796.3(AFG3L2):c.1164+1G>A	rs1598832526
NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr)	rs151344512
NM_006796.3(AFG3L2):c.1651C>T (p.Arg551Ter)
NM_006796.3(AFG3L2):c.1861C>G (p.Leu621Val)	rs756912142
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.1997T>G (p.Met666Arg)	rs151344515
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg)	rs151344517
NM_006796.3(AFG3L2):c.2021_2022delinsTA (p.Ser674Leu)	rs151344519
NM_006796.3(AFG3L2):c.2062C>T (p.Pro688Ser)	rs797045221
NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys)	rs151344520
NM_006796.3(AFG3L2):c.2081C>A (p.Ala694Glu)	rs151344521
NM_006796.3(AFG3L2):c.[1385C>T;1858C>A]

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