List of variants in gene AFG2B reported as pathogenic for Neurodevelopmental disorder with hearing loss and spasticity

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		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.1199C>T (p.Thr400Ile)	rs1372719653	0.00002
NM_024063.3(AFG2B):c.1826C>G (p.Ser609Ter)	rs778481503	0.00001
NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val)	rs777812455	0.00001
NM_024063.3(AFG2B):c.2006T>G (p.Met669Arg)	rs1890625577

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