List of variants reported as likely pathogenic for Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy by Yale Center for Mendelian Genomics, Yale University

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_177400.3(NKX6-2):c.541C>G (p.Leu181Val)	rs369901030	0.00008
NM_177400.3(NKX6-2):c.301C>A (p.Arg101Ser)	rs1207105923	0.00001
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)	rs1131692048
NM_177400.3(NKX6-2):c.592A>G (p.Asn198Asp)	rs2134706153
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)	rs1008088032

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