ClinVar Miner

List of variants in gene PRICKLE1 reported as pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_153026.2(PRICKLE1):c.100G>A (p.Ala34Thr) rs781255236
NM_153026.2(PRICKLE1):c.1414T>C (p.Tyr472His) rs281865564
NM_153026.2(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760
NM_153026.2(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140
NM_153026.2(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668
NM_153026.2(PRICKLE1):c.431G>A (p.Arg144His) rs281865563

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