List of variants reported as uncertain significance for Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_177400.3(NKX6-2):c.59A>G (p.His20Arg)	rs745907425	0.00001
NM_177400.3(NKX6-2):c.175G>T (p.Gly59Cys)
NM_177400.3(NKX6-2):c.305G>T (p.Gly102Val)
NM_177400.3(NKX6-2):c.450C>G (p.His150Gln)	rs958289238
NM_177400.3(NKX6-2):c.501C>G (p.Phe167Leu)	rs1375888398
NM_177400.3(NKX6-2):c.89T>G (p.Phe30Cys)

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