List of variants in gene AFG3L2, TUBB6 studied for Spinocerebellar ataxia type 28

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_006796.3(AFG3L2):c.*28G>C	rs1129115	0.28281
NM_006796.3(AFG3L2):c.*2G>A	rs113981080	0.01903
NM_006796.3(AFG3L2):c.*109A>C	rs114203162	0.00915
NM_006796.3(AFG3L2):c.*379T>A	rs150224434	0.00073
NM_006796.3(AFG3L2):c.*221A>G	rs886053613	0.00048
NM_006796.3(AFG3L2):c.*484A>G	rs565352114	0.00019
NM_006796.3(AFG3L2):c.*326G>A	rs180917336	0.00015
NM_006796.3(AFG3L2):c.*373G>A	rs886053612	0.00004
NM_006796.3(AFG3L2):c.2347C>T (p.Arg783Trp)	rs200514577	0.00003
NM_006796.3(AFG3L2):c.*585A>C	rs886053611	0.00001
NM_006796.3(AFG3L2):c.2346G>T (p.Glu782Asp)	rs886053614	0.00001
NM_006796.3(AFG3L2):c.*311C>T	rs79884272
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe)	rs117182113

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