ClinVar Miner

List of variants in gene RAB3GAP2 reported as benign for congenital nervous system disorder

Included ClinVar conditions (840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_012414.4(RAB3GAP2):c.*404T>C rs1059140 0.06883
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=) rs11547779 0.06867
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr) rs2289189 0.06844
NM_012414.4(RAB3GAP2):c.1041-18A>C rs73098579 0.04963
NM_012414.4(RAB3GAP2):c.3868-31C>G rs12032738 0.04866
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) rs12045447 0.04740
NM_012414.4(RAB3GAP2):c.*1504G>T rs41303053 0.03924
NM_012414.4(RAB3GAP2):c.713-12T>C rs76473498 0.03857
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=) rs2577126 0.03652
NM_012414.4(RAB3GAP2):c.*1130A>G rs548918189 0.00800
NM_012414.4(RAB3GAP2):c.961-14G>T rs148886986 0.00475
NM_012414.4(RAB3GAP2):c.1779+7G>A rs111345353 0.00390
NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=) rs73098539 0.00338
NM_012414.4(RAB3GAP2):c.*925C>T rs185747953 0.00318
NM_012414.4(RAB3GAP2):c.3966A>G (p.Lys1322=) rs150226729 0.00206
NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=) rs145667920 0.00149
NM_012414.4(RAB3GAP2):c.3867+13C>T rs200579008 0.00087
NM_012414.4(RAB3GAP2):c.3226-18T>G rs139628150 0.00061
NM_012414.4(RAB3GAP2):c.613-14T>A rs374690916 0.00053
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.1709A>G (p.Asn570Ser) rs143286302 0.00006
NM_012414.4(RAB3GAP2):c.*2043G>A rs367962640 0.00003
NM_012414.4(RAB3GAP2):c.2522C>T (p.Ala841Val) rs764713903 0.00003
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val) rs201613456 0.00002
NM_012414.4(RAB3GAP2):c.2417-4A>G rs577016598 0.00002
NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=) rs576411922 0.00001
NM_012414.4(RAB3GAP2):c.*2920CTT[1] rs3217443
NM_012414.4(RAB3GAP2):c.1126G>A (p.Val376Ile)
NM_012414.4(RAB3GAP2):c.2310+13dup
NM_012414.4(RAB3GAP2):c.2578-6dup
NM_012414.4(RAB3GAP2):c.304+12A>G rs530311696
NM_012414.4(RAB3GAP2):c.3262-4dup
NM_012414.4(RAB3GAP2):c.3999C>T (p.Pro1333=) rs539609673
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_012414.4(RAB3GAP2):c.812-6dup rs35396665
NM_012414.4(RAB3GAP2):c.812-7_812-6del rs35396665

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