List of variants reported as pathogenic for Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter)	rs1131692047
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)	rs1131692048
NM_177400.3(NKX6-2):c.565G>T (p.Glu189Ter)	rs776560015
NM_177400.3(NKX6-2):c.589C>T (p.Gln197Ter)	rs1565019976
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)	rs1008088032
NM_177400.3(NKX6-2):c.606delinsTA (p.Lys202fs)	rs1565019932

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