ClinVar Miner

List of variants reported as benign for Warburg micro syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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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 0.54411
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686 0.14088
NM_012233.3(RAB3GAP1):c.*1077T>C rs16831395 0.06295
NM_012233.3(RAB3GAP1):c.*1378T>C rs59746814 0.04459
NM_012233.3(RAB3GAP1):c.*171G>A rs11558413 0.04215
NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=) rs7595725 0.02952
NM_012233.3(RAB3GAP1):c.*135C>G rs10170125 0.02787
NM_021252.5(RAB18):c.260-7dup rs142609338 0.01674
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 0.00970
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) rs61748693 0.00825
NM_012233.3(RAB3GAP1):c.669G>T (p.Leu223Phe) rs76927619 0.00770
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) rs116775947 0.00658
NM_012233.3(RAB3GAP1):c.*992G>A rs11558414 0.00600
NM_012233.3(RAB3GAP1):c.*1826G>C rs114264557 0.00318
NM_012233.3(RAB3GAP1):c.*404C>T rs149483456 0.00256
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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