ClinVar Miner

List of variants in gene PRICKLE2 reported as likely benign for Unverricht-Lundborg syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_198859.4(PRICKLE2):c.*133G>A rs370569305
NM_198859.4(PRICKLE2):c.*2269T>C rs550841859
NM_198859.4(PRICKLE2):c.*2633G>A
NM_198859.4(PRICKLE2):c.*3178G>C rs528929996
NM_198859.4(PRICKLE2):c.*3489G>A
NM_198859.4(PRICKLE2):c.*3852C>A
NM_198859.4(PRICKLE2):c.*4057G>A rs140931283
NM_198859.4(PRICKLE2):c.*4354C>G
NM_198859.4(PRICKLE2):c.-252G>C rs142388795
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=) rs144455095
NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=) rs146538069
NM_198859.4(PRICKLE2):c.788-6T>C rs180903875

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