ClinVar Miner

List of variants studied for spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (1):

Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_177400.3(NKX6-2):c.162C>A (p.Leu54=)
NM_177400.3(NKX6-2):c.196del (p.Arg66fs)	rs1554961118
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)	rs1131692048

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