ClinVar Miner

List of variants in gene combination AFG3L2, TUBB6

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_006796.3(AFG3L2):c.*28G>C rs1129115 0.28188
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.*16C>T rs373716760 0.00004
NM_006796.3(AFG3L2):c.2195A>G (p.Glu732Gly) rs562544252 0.00004
NM_006796.3(AFG3L2):c.2312C>T (p.Ser771Leu) rs969327635 0.00004
NM_006796.3(AFG3L2):c.2392T>C (p.Ter798Gln) rs773545779 0.00004
NM_006796.3(AFG3L2):c.2394G>C (p.Ter798Tyr) rs772687780 0.00004
NM_006796.3(AFG3L2):c.*373G>A rs886053612 0.00003
NM_006796.3(AFG3L2):c.2252C>T (p.Ala751Val) rs543969956 0.00003
NM_006796.3(AFG3L2):c.2347C>T (p.Arg783Trp) rs200514577 0.00003
NM_006796.3(AFG3L2):c.2359A>G (p.Lys787Glu) rs761546721 0.00003
NM_006796.3(AFG3L2):c.2176-7A>C rs914045907 0.00002
NM_006796.3(AFG3L2):c.2358G>A (p.Glu786=) rs767374819 0.00002
NM_006796.3(AFG3L2):c.2372C>T (p.Pro791Leu) rs372136184 0.00002
NM_006796.3(AFG3L2):c.*585A>C rs886053611 0.00001
NM_006796.3(AFG3L2):c.2239C>G (p.Pro747Ala) rs1270837132 0.00001
NM_006796.3(AFG3L2):c.2346G>T (p.Glu782Asp) rs886053614 0.00001
NM_006796.3(AFG3L2):c.2348G>A (p.Arg783Gln) rs753450684 0.00001
NM_006796.3(AFG3L2):c.2350G>A (p.Glu784Lys) rs765789778 0.00001
NM_006796.3(AFG3L2):c.2382A>G (p.Lys794=) rs1296929028 0.00001
NM_006796.3(AFG3L2):c.*311C>T rs79884272
NM_006796.3(AFG3L2):c.2185C>G (p.Leu729Val) rs752028185
NM_006796.3(AFG3L2):c.2218G>C (p.Asp740His) rs2143074393
NM_006796.3(AFG3L2):c.2218G>T (p.Asp740Tyr) rs2143074393
NM_006796.3(AFG3L2):c.2222T>C (p.Met741Thr)
NM_006796.3(AFG3L2):c.2252C>A (p.Ala751Glu)
NM_006796.3(AFG3L2):c.2295C>T (p.Ser765=) rs769883388
NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile) rs117182113
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_006796.3(AFG3L2):c.2316T>G (p.Leu772=) rs1335529087
NM_006796.3(AFG3L2):c.2317C>G (p.Pro773Ala)
NM_006796.3(AFG3L2):c.2327T>C (p.Leu776Pro) rs1568130466
NM_006796.3(AFG3L2):c.2353A>G (p.Lys785Glu)
NM_006796.3(AFG3L2):c.2364G>A (p.Glu788=) rs2510216271
NM_006796.3(AFG3L2):c.2375G>C (p.Gly792Ala) rs2510216250
NM_006796.3(AFG3L2):c.2375del (p.Gly792fs) rs1907449398
NM_006796.3(AFG3L2):c.[1814A>G;2375dup]

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