ClinVar Miner

List of variants in gene AFG3L2 reported as likely pathogenic for cerebellar disorder

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His) rs1598820860 0.00001
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg) rs1598832568
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) rs727502823
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr) rs797045221

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