ClinVar Miner

List of variants in gene combination AFG3L2, TUBB6 reported as uncertain significance for cerebellar disorder

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
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.2314C>A (p.Leu772Ile) rs117182113

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