ClinVar Miner

List of variants in gene AFG2B studied for perceptual disorders

Included ClinVar conditions (765):
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_024063.3(AFG2B):c.527G>T (p.Gly176Val) rs145451123 0.00098
NM_024063.3(AFG2B):c.1398T>G (p.Ile466Met) rs34675173 0.00011
NM_024063.3(AFG2B):c.2147_2148del (p.Gln716fs) rs763343580 0.00006
NM_024063.3(AFG2B):c.1304_1305del (p.Ile435fs)
NM_024063.3(AFG2B):c.1682T>G (p.Leu561Trp)
NM_024063.3(AFG2B):c.[213T>G;1313T>C]

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