ClinVar Miner

List of variants reported as likely 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: 33
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HGVS dbSNP gnomAD frequency
NC_000002.12:g.135170722G>T rs2305247 0.06411
NM_012233.3(RAB3GAP1):c.1325A>G (p.Tyr442Cys) rs114901298 0.01077
NM_012414.4(RAB3GAP2):c.*2327A>G rs139079455 0.00513
NM_012233.2(RAB3GAP1):c.-53C>G rs78560065 0.00503
NM_012414.4(RAB3GAP2):c.961-14G>T rs148886986 0.00475
NM_012233.3(RAB3GAP1):c.*303G>A rs72980321 0.00455
NM_012414.4(RAB3GAP2):c.*2638C>T rs74139286 0.00455
NM_012414.4(RAB3GAP2):c.*2464T>C rs111341601 0.00444
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342 0.00415
NM_021252.5(RAB18):c.*2974C>G rs532562164 0.00370
NM_012414.4(RAB3GAP2):c.*2399A>G rs115637988 0.00369
NM_012414.4(RAB3GAP2):c.*1404T>C rs188666578 0.00355
NM_012414.4(RAB3GAP2):c.*1271C>T rs193019999 0.00318
NM_012414.4(RAB3GAP2):c.*1527G>C rs185153185 0.00255
NM_012414.4(RAB3GAP2):c.3966A>G (p.Lys1322=) rs150226729 0.00206
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) rs59190330 0.00174
NM_012414.4(RAB3GAP2):c.*645C>T rs188031183 0.00158
NM_021252.5(RAB18):c.*254A>G rs75899834 0.00158
NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=) rs145667920 0.00149
NM_012233.3(RAB3GAP1):c.1307C>T (p.Pro436Leu) rs75269203 0.00146
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile) rs149842844 0.00050
NM_012414.4(RAB3GAP2):c.2807-15G>A rs200407685 0.00038
NM_021252.5(RAB18):c.*2242A>G rs186240753 0.00032
NM_021252.5(RAB18):c.*2302A>G rs190504134 0.00027
NM_012414.4(RAB3GAP2):c.2304G>A (p.Leu768=) rs140146408 0.00014
NM_012414.4(RAB3GAP2):c.3143A>G (p.His1048Arg) rs151244742 0.00013
NM_021252.5(RAB18):c.*170T>C rs567179590 0.00011
NM_012233.3(RAB3GAP1):c.*170C>T rs180839370 0.00010
NM_012233.3(RAB3GAP1):c.267G>A (p.Lys89=) rs757292994 0.00002
NM_012414.4(RAB3GAP2):c.*572G>T rs540128548 0.00001
NM_012414.4(RAB3GAP2):c.*1694_*1695insACA rs143194915
NM_012414.4(RAB3GAP2):c.*2512dup rs143756119
NM_012414.4(RAB3GAP2):c.304+12A>G rs530311696

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