ClinVar Miner

List of variants studied for Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy by Baylor Genetics

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Total variants: 3
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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.450C>G (p.His150Gln) rs958289238
NM_177400.3(NKX6-2):c.89T>G (p.Phe30Cys)

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