ClinVar Miner

List of variants reported as benign for Warburg micro syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_021252.5(RAB18):c.*3803_*3804insT rs3832657 0.79694
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.53257
NM_021252.5(RAB18):c.*3453G>A rs11015861 0.43562
NM_021252.5(RAB18):c.*3696T>A rs10829269 0.19806
NM_021252.5(RAB18):c.*3484T>C rs11598268 0.17485
NM_021252.5(RAB18):c.*3476A>G rs11597728 0.17476
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686 0.14088
NM_012414.4(RAB3GAP2):c.*404T>C rs1059140 0.06883
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=) rs11547779 0.06867
NM_021252.5(RAB18):c.*2375A>G rs2477317 0.06862
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr) rs2289189 0.06844
NM_012233.3(RAB3GAP1):c.*1077T>C rs16831395 0.06295
NM_012233.3(RAB3GAP1):c.*1378T>C rs59746814 0.04762
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) rs12045447 0.04740
NM_012233.3(RAB3GAP1):c.*171G>A rs11558413 0.04215
NM_021252.5(RAB18):c.*2744C>T rs12254670 0.03950
NM_021252.5(RAB18):c.*2449A>G rs12260532 0.03947
NM_021252.5(RAB18):c.*1412C>T rs10508723 0.03943
NM_021252.5(RAB18):c.*2476G>A rs12267298 0.03943
NM_021252.5(RAB18):c.*387C>A rs12248740 0.03936
NM_012414.4(RAB3GAP2):c.*1504G>T rs41303053 0.03924
NM_012414.4(RAB3GAP2):c.713-12T>C rs76473498 0.03857
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=) rs2577126 0.03652
NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=) rs7595725 0.02952
NM_021252.5(RAB18):c.592G>A (p.Ala198Thr) rs11015859 0.02882
NM_021252.5(RAB18):c.*3584C>T rs11015862 0.02826
NM_012233.3(RAB3GAP1):c.*135C>G rs10170125 0.02787
NM_021252.5(RAB18):c.*3129C>T rs78270485 0.02396
NM_021252.5(RAB18):c.*757G>T rs76051289 0.02074
NM_021252.5(RAB18):c.*3939A>T rs1047915 0.01932
NM_021252.5(RAB18):c.260-7dup rs142609338 0.01674
NM_021252.5(RAB18):c.*1542T>C rs10508724 0.01545
NM_021252.5(RAB18):c.*504A>G rs12571836 0.01543
NM_012233.3(RAB3GAP1):c.1041A>G (p.Arg347=) rs77972211 0.01269
NM_012233.3(RAB3GAP1):c.*995T>C rs116237324 0.01076
NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=) rs73959261 0.01043
NM_021252.5(RAB18):c.*278A>T rs41282848 0.00905
NM_021252.5(RAB18):c.*758A>T rs10508722 0.00879
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) rs61748693 0.00825
NM_012414.4(RAB3GAP2):c.*1130A>G rs548918189 0.00800
NM_012233.3(RAB3GAP1):c.669G>T (p.Leu223Phe) rs76927619 0.00770
NM_012233.3(RAB3GAP1):c.*992G>A rs11558414 0.00645
NM_021252.4(RAB18):c.-83C>A rs115326586 0.00616
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) rs116775947 0.00602
NM_021252.5(RAB18):c.*1488A>C rs148630305 0.00510
NM_021252.5(RAB18):c.-20C>T rs74127323 0.00438
NM_012414.4(RAB3GAP2):c.1779+7G>A rs111345353 0.00390
NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=) rs73098539 0.00338
NM_012233.3(RAB3GAP1):c.*1826G>C rs114264557 0.00318
NM_012414.4(RAB3GAP2):c.*925C>T rs185747953 0.00318
NM_021252.5(RAB18):c.*2529G>A rs145293804 0.00250
NM_021252.5(RAB18):c.*4131A>G rs540759797 0.00212
NM_021252.5(RAB18):c.*3521C>T rs142174174 0.00208
NM_012233.3(RAB3GAP1):c.*404C>T rs149483456 0.00180
NM_021252.5(RAB18):c.*3967T>C rs571495776 0.00145
NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser) rs143286302 0.00006
NM_021252.5(RAB18):c.*448G>A rs563981728 0.00006
NM_012414.4(RAB3GAP2):c.*2043G>A rs367962640 0.00003
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val) rs201613456 0.00002
NM_012233.3(RAB3GAP1):c.*1208del rs200869351
NM_012233.3(RAB3GAP1):c.*261dup rs143703110
NM_012233.3(RAB3GAP1):c.2800C>G (p.Pro934Ala) rs77535003
NM_012414.4(RAB3GAP2):c.*2920CTT[1] rs3217443
NM_012414.4(RAB3GAP2):c.812-6del rs35396665

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