ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_198859.4(PRICKLE2):c.*1310C>T rs17069879
NM_198859.4(PRICKLE2):c.*1605T>G rs26938
NM_198859.4(PRICKLE2):c.*1763G>A rs26939
NM_198859.4(PRICKLE2):c.*2772A>G rs27383
NM_198859.4(PRICKLE2):c.*2891C>T rs34723451
NM_198859.4(PRICKLE2):c.*3491A>G rs153730
NM_198859.4(PRICKLE2):c.*4733G>A rs153732
NM_198859.4(PRICKLE2):c.*4797G>A rs153733
NM_198859.4(PRICKLE2):c.*579del rs35195442
NM_198859.4(PRICKLE2):c.*695A>C rs26937
NM_198859.4(PRICKLE2):c.-557C>T rs697287
NM_198859.4(PRICKLE2):c.259-6A>G rs2306380
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673

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