ClinVar Miner

List of variants studied for Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy by Centogene AG - the Rare Disease Company

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Total variants: 3
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HGVS dbSNP gnomAD frequency
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.608G>A (p.Trp203Ter) rs1565019928

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