List of variants in gene AFG2B studied for Neurodevelopmental disorder with hearing loss and spasticity

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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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.213T>G (p.Phe71Leu)	rs776678464	0.00005
NM_024063.3(AFG2B):c.1199C>T (p.Thr400Ile)	rs1372719653	0.00002
NM_024063.3(AFG2B):c.1313T>C (p.Leu438Pro)	rs1480279583	0.00001
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.1526G>T (p.Cys509Phe)	rs2542067753
NM_024063.3(AFG2B):c.1556C>A (p.Ala519Asp)	rs757503048
NM_024063.3(AFG2B):c.2006T>G (p.Met669Arg)	rs1890625577
NM_024063.3(AFG2B):c.95G>A (p.Gly32Asp)	rs1210923128

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