ClinVar Miner

List of variants reported as pathogenic for cerebellar disorder by NIHR Bioresource Rare Diseases, University of Cambridge

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700 0.00001
NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro) rs137853066
NM_003560.4(PLA2G6):c.1634A>C (p.Lys545Thr) rs121908681
NM_006612.6(KIF1C):c.1051_1055del (p.Asn351fs) rs1597846084
NM_014704.4(CEP104):c.89del (p.Thr30fs) rs1570858523

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