ClinVar Miner

List of variants in gene AFG3L2, TUBB6 studied for spastic ataxia

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006796.3(AFG3L2):c.*28G>C rs1129115 0.28281
NM_006796.3(AFG3L2):c.2312C>T (p.Ser771Leu)
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.2394G>C (p.Ter798Tyr)

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