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: 25
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HGVS dbSNP gnomAD frequency
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673 0.98545
NM_198859.4(PRICKLE2):c.*1605T>G rs26938 0.93091
NM_198859.4(PRICKLE2):c.*2772A>G rs27383 0.92477
NM_198859.4(PRICKLE2):c.*4733G>A rs153732 0.90732
NM_198859.4(PRICKLE2):c.*4797G>A rs153733 0.90729
NM_198859.4(PRICKLE2):c.*695A>C rs26937 0.54681
NM_198859.4(PRICKLE2):c.*3491A>G rs153730 0.35921
NM_198859.4(PRICKLE2):c.259-6A>G rs2306380 0.35289
NM_198859.4(PRICKLE2):c.*1763G>A rs26939 0.33203
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698 0.24032
NM_198859.4(PRICKLE2):c.*2797A>T rs35969433 0.18557
NM_198859.4(PRICKLE2):c.*1310C>T rs17069879 0.16935
NM_198859.4(PRICKLE2):c.*2891C>T rs34723451 0.15467
NM_198859.4(PRICKLE2):c.*2724C>A rs12494731 0.14074
NM_198859.4(PRICKLE2):c.*2447G>A rs56262708 0.07615
NM_198859.4(PRICKLE2):c.984C>T (p.Asn328=) rs34460293 0.06381
NM_198859.4(PRICKLE2):c.*1589G>A rs62249882 0.04161
NM_198859.4(PRICKLE2):c.*2567A>T rs62249881 0.02734
NM_198859.4(PRICKLE2):c.*3333T>C rs72874609 0.02403
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=) rs116353694 0.01695
NM_198859.4(PRICKLE2):c.-68G>A rs150393747 0.01201
NM_198859.4(PRICKLE2):c.*1277C>G rs17069880 0.00857
NM_198859.4(PRICKLE2):c.*1044C>T rs111362297 0.00452
NM_198859.4(PRICKLE2):c.*4238C>T rs14056
NM_198859.4(PRICKLE2):c.*579del rs35195442

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