ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NM_001172435.1(RAB3GAP1):c.*1941G>T rs2305247
NM_012233.2(RAB3GAP1):c.-53C>G rs78560065
NM_012233.3(RAB3GAP1):c.*170C>T rs180839370
NM_012233.3(RAB3GAP1):c.*303G>A rs72980321
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342
NM_012233.3(RAB3GAP1):c.1307C>T (p.Pro436Leu) rs75269203
NM_012233.3(RAB3GAP1):c.1325A>G (p.Tyr442Cys) rs114901298
NM_012233.3(RAB3GAP1):c.267G>A (p.Lys89=) rs757292994
NM_012414.4(RAB3GAP2):c.*1271C>T rs193019999
NM_012414.4(RAB3GAP2):c.*1404T>C
NM_012414.4(RAB3GAP2):c.*1527G>C
NM_012414.4(RAB3GAP2):c.*1694_*1695insACA rs143194915
NM_012414.4(RAB3GAP2):c.*2327A>G rs139079455
NM_012414.4(RAB3GAP2):c.*2399A>G
NM_012414.4(RAB3GAP2):c.*2464T>C rs111341601
NM_012414.4(RAB3GAP2):c.*2512dup rs143756119
NM_012414.4(RAB3GAP2):c.*2638C>T
NM_012414.4(RAB3GAP2):c.*572G>T
NM_012414.4(RAB3GAP2):c.*645C>T rs188031183
NM_012414.4(RAB3GAP2):c.2304G>A (p.Leu768=) rs140146408
NM_012414.4(RAB3GAP2):c.2807-15G>A rs200407685
NM_012414.4(RAB3GAP2):c.304+12A>G rs530311696
NM_012414.4(RAB3GAP2):c.3143A>G (p.His1048Arg) rs151244742
NM_012414.4(RAB3GAP2):c.3966A>G (p.Lys1322=)
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile) rs149842844
NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=) rs145667920
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) rs59190330
NM_012414.4(RAB3GAP2):c.961-14G>T rs148886986
NM_021252.5(RAB18):c.*170T>C
NM_021252.5(RAB18):c.*2242A>G rs186240753
NM_021252.5(RAB18):c.*2302A>G
NM_021252.5(RAB18):c.*254A>G rs75899834
NM_021252.5(RAB18):c.*2974C>G rs532562164

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