ClinVar Miner

List of variants in gene RAB3GAP2 reported as likely benign for Warburg micro syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP
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.1215C>T (p.Phe405=) rs762485949
NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu) rs150643803
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049
NM_012414.4(RAB3GAP2):c.2304G>A (p.Leu768=) rs140146408
NM_012414.4(RAB3GAP2):c.2403G>A (p.Leu801=)
NM_012414.4(RAB3GAP2):c.2417-7C>T rs973067244
NM_012414.4(RAB3GAP2):c.2667T>G (p.Leu889=) rs145550355
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.3294T>C (p.Ser1098=)
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=) rs140377995
NM_012414.4(RAB3GAP2):c.3400G>C (p.Val1134Leu)
NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr)
NM_012414.4(RAB3GAP2):c.3702C>T (p.Val1234=) rs137897304
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys) rs34081806
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.4026+10A>G
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) rs59190330
NM_012414.4(RAB3GAP2):c.4161C>T (p.Ala1387=) rs772430156
NM_012414.4(RAB3GAP2):c.597C>T (p.Pro199=)
NM_012414.4(RAB3GAP2):c.812-6T>A rs575925720
NM_012414.4(RAB3GAP2):c.938C>T (p.Thr313Ile) rs74139292
NM_012414.4(RAB3GAP2):c.961-14G>T rs148886986

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