ClinVar Miner

List of variants studied for autosomal recessive syndromic cerebellar ataxia by Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL)

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983 0.00004
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg) rs777457079 0.00001

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