ClinVar Miner

List of variants reported as benign for Progressive myoclonic epilepsy by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 29
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HGVS dbSNP
NM_001167961.2(KCTD7):c.*2773_*2775CAA[1] rs35961913
NM_004287.4(GOSR2):c.*1115G>A rs758391
NM_004287.4(GOSR2):c.*1519T>C rs4968286
NM_004287.4(GOSR2):c.*1711G>A rs11657819
NM_004287.4(GOSR2):c.*1733A>G rs758392
NM_004287.4(GOSR2):c.*2337T>C rs1052586
NM_004287.4(GOSR2):c.*301T>C rs8078556
NM_004287.4(GOSR2):c.-12G>C rs183199
NM_004287.4(GOSR2):c.-30G>C rs189899
NM_004287.4(GOSR2):c.200G>A (p.Arg67Lys) rs197922
NM_153033.4(KCTD7):c.*2656A>G rs1860469
NM_153033.4(KCTD7):c.*3033T>C rs1860468
NM_153033.4(KCTD7):c.*944C>G rs9791712
NM_153033.4(KCTD7):c.*979C>A rs9791713
NM_153033.4(KCTD7):c.-44C>T rs35526611
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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