ClinVar Miner

List of variants studied for spinocerebellar ataxia, autosomal recessive, with axonal neuropathy by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038

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