ClinVar Miner

List of variants studied for Warburg micro syndrome by Illumina Laboratory Services, Illumina

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Total variants: 41
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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_001172435.1(RAB3GAP1):c.*1941G>T rs2305247 0.06411
NM_021252.5(RAB18):c.260-7dup rs142609338 0.01674
NM_012233.2(RAB3GAP1):c.-53C>G rs78560065 0.00503
NM_012414.3(RAB3GAP2):c.-132G>A rs572492875 0.00031
NM_012414.4(RAB3GAP2):c.*374T>G rs765864531 0.00019
NM_012414.4(RAB3GAP2):c.-78C>T rs557235116 0.00013
NM_012414.4(RAB3GAP2):c.*2551_*2552del rs886046008 0.00009
NM_012233.3(RAB3GAP1):c.*283C>T rs765003230 0.00001
NM_012414.4(RAB3GAP2):c.*1145del rs886046014 0.00001
NM_012233.3(RAB3GAP1):c.*1208del rs200869351
NM_012233.3(RAB3GAP1):c.*1208dup rs200869351
NM_012233.3(RAB3GAP1):c.*261dup rs143703110
NM_012233.3(RAB3GAP1):c.*985dup rs370069043
NM_012233.3(RAB3GAP1):c.393C>T (p.Ala131=) rs779596900
NM_012414.3(RAB3GAP2):c.*2970_*2973dup rs529035209
NM_012414.4(RAB3GAP2):c.*1144del rs11316594
NM_012414.4(RAB3GAP2):c.*1694_*1695insACA rs143194915
NM_012414.4(RAB3GAP2):c.*2090AAAT[2] rs886046013
NM_012414.4(RAB3GAP2):c.*2210G>C rs886046012
NM_012414.4(RAB3GAP2):c.*2338_*2339del rs886046011
NM_012414.4(RAB3GAP2):c.*2392_*2395dup rs552063647
NM_012414.4(RAB3GAP2):c.*2512del rs143756119
NM_012414.4(RAB3GAP2):c.*2512dup rs143756119
NM_012414.4(RAB3GAP2):c.*2920CTT[1] rs3217443
NM_012414.4(RAB3GAP2):c.*798_*799dup rs35147354
NM_012414.4(RAB3GAP2):c.*799dup rs35147354
NM_012414.4(RAB3GAP2):c.1999-26GTTTT[2] rs764326258
NM_012414.4(RAB3GAP2):c.2416+8_2416+9del rs769425345
NM_012414.4(RAB3GAP2):c.3829G>C (p.Glu1277Gln) rs886046019
NM_012414.4(RAB3GAP2):c.613-14del rs572027376
NM_012414.4(RAB3GAP2):c.613-24dup rs572027376
NM_012414.4(RAB3GAP2):c.812-6del rs35396665
NM_021252.5(RAB18):c.*150C>T rs768390542
NM_021252.5(RAB18):c.*16A>G rs886046968
NM_021252.5(RAB18):c.*2030G>T rs750141100
NM_021252.5(RAB18):c.*3046_*3047dup rs886046976
NM_021252.5(RAB18):c.*3293del rs573606717
NM_021252.5(RAB18):c.*3599dup rs779470678
NM_021252.5(RAB18):c.*3701GACT[1] rs759695566

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