ClinVar Miner

List of variants studied for autosomal recessive spastic ataxia by Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_006796.3(AFG3L2):c.634dup (p.Val212fs) rs2143196334
NM_014363.6(SACS):c.2225G>C (p.Arg742Pro) rs2137645971
NM_014363.6(SACS):c.4430T>C (p.Ile1477Thr) rs2137627792

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