ClinVar Miner

List of variants reported as likely benign for Warburg micro syndrome 2 by Illumina Laboratory Services, Illumina

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_012414.4(RAB3GAP2):c.*2327A>G rs139079455 0.00513
NM_012414.4(RAB3GAP2):c.961-14G>T rs148886986 0.00475
NM_012414.4(RAB3GAP2):c.*2638C>T rs74139286 0.00455
NM_012414.4(RAB3GAP2):c.*2464T>C rs111341601 0.00444
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_012414.4(RAB3GAP2):c.39C>T (p.Asp13=) rs145667920 0.00149
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile) rs149842844 0.00050
NM_012414.4(RAB3GAP2):c.2807-15G>A rs200407685 0.00038
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_012414.4(RAB3GAP2):c.*572G>T rs540128548 0.00001
NM_012414.4(RAB3GAP2):c.304+12A>G rs530311696

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