List of variants studied for Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy by Yale Center for Mendelian Genomics, Yale University

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Total variants: 13

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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.121A>T (p.Lys41Ter)	rs1131692047
NM_177400.3(NKX6-2):c.196del (p.Arg66fs)	rs1554961118
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.571C>T (p.Gln191Ter)	rs2134706311
NM_177400.3(NKX6-2):c.589C>T (p.Gln197Ter)	rs1565019976
NM_177400.3(NKX6-2):c.592A>G (p.Asn198Asp)	rs2134706153
NM_177400.3(NKX6-2):c.598C>T (p.Arg200Trp)	rs770310729
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)	rs1008088032
NM_177400.3(NKX6-2):c.606delinsTA (p.Lys202fs)	rs1565019932
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter)	rs1565019928

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