ClinVar Miner

List of variants in gene combination LOC130007700, PRICKLE1 reported as likely benign for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_153026.3(PRICKLE1):c.249A>G (p.Val83=) rs763029790 0.00004
NM_153026.3(PRICKLE1):c.276G>A (p.Glu92=) rs1555230725 0.00001
NM_153026.3(PRICKLE1):c.255T>C (p.Tyr85=)
NM_153026.3(PRICKLE1):c.327G>A (p.Leu109=)

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