ClinVar Miner

List of variants reported as likely benign for Unverricht-Lundborg syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_004287.5(GOSR2):c.*2292C>T rs79673308 0.10999
NM_004287.5(GOSR2):c.*1067G>A rs11874 0.08663
NM_004287.5(GOSR2):c.*1062A>T rs16941324 0.03601
NM_004287.5(GOSR2):c.*1655A>G rs116123534 0.03006
NM_004287.5(GOSR2):c.*2342A>G rs61745471 0.01873
NM_000100.4(CSTB):c.*93A>G rs9446 0.01254
NM_198859.4(PRICKLE2):c.-252G>C rs142388795 0.01230
NM_004287.5(GOSR2):c.*2293G>A rs77706742 0.01200
NM_198859.4(PRICKLE2):c.*3489G>A rs143062140 0.00811
NM_000100.4(CSTB):c.*69A>G rs142767585 0.00798
NM_198859.4(PRICKLE2):c.*3852C>A rs153731 0.00717
NM_000100.4(CSTB):c.67-3T>C rs6383 0.00473
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=) rs144455095 0.00228
NM_198859.4(PRICKLE2):c.*4057G>A rs140931283 0.00204
NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=) rs146538069 0.00190
NM_198859.4(PRICKLE2):c.788-6T>C rs180903875 0.00143
NM_198859.4(PRICKLE2):c.*133G>A rs370569305 0.00021
NM_198859.4(PRICKLE2):c.*4354C>G rs186186236 0.00017
NM_198859.4(PRICKLE2):c.*2633G>A rs140420417 0.00003
NM_198859.4(PRICKLE2):c.*2269T>C rs550841859 0.00002
NM_198859.4(PRICKLE2):c.*3178G>C rs528929996 0.00002
NM_004287.5(GOSR2):c.*288_*296dup rs376212419
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_153026.3(PRICKLE1):c.-122CGCAGCCC[3] rs561368128

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