List of variants in gene AFG3L2 reported as benign for autosomal dominant 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=)	rs11553521	0.77624
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=)	rs11080572	0.67857
NM_006796.3(AFG3L2):c.752+6C>T	rs8097342	0.67671
NM_006796.3(AFG3L2):c.-96G>C	rs12327346	0.14255
NM_006796.3(AFG3L2):c.1026+8G>A	rs8091858	0.02347
NM_006796.3(AFG3L2):c.-71C>T	rs571340907	0.00605
NM_006796.3(AFG3L2):c.-137G>C	rs191000529	0.00494
NM_006796.3(AFG3L2):c.1664-9T>C	rs200476229	0.00182
NM_006796.3(AFG3L2):c.-32C>T	rs556432963	0.00133
NM_006796.3(AFG3L2):c.1319-7C>T	rs182327153	0.00102
NM_006796.3(AFG3L2):c.400-14C>G	rs192002414	0.00088
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr)	rs149605021	0.00069
NM_006796.3(AFG3L2):c.498C>T (p.Ser166=)	rs141538541	0.00016
NM_006796.2(AFG3L2):c.-151C>T	rs554944971	0.00007
NM_006796.3(AFG3L2):c.215-5A>C	rs371046479	0.00001
NM_006796.3(AFG3L2):c.753-55T>C	rs7407640

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