ClinVar Miner

List of variants in gene combination GOSR2, LRRC37A2 reported as likely benign for adolescent-onset epilepsy syndrome

Included ClinVar conditions (69):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 66
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004287.5(GOSR2):c.*2292C>T rs79673308 0.10999
NM_004287.5(GOSR2):c.*1067G>A rs11874 0.08663
NM_004287.5(GOSR2):c.*1062A>T rs16941324 0.03601
NM_004287.5(GOSR2):c.*1655A>G rs116123534 0.03006
NM_004287.5(GOSR2):c.*2342A>G rs61745471 0.01873
NM_004287.5(GOSR2):c.*2293G>A rs77706742 0.01200
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys) rs113817924 0.00232
NM_004287.5(GOSR2):c.322A>C (p.Thr108Pro) rs138510884 0.00108
NM_004287.5(GOSR2):c.369A>G (p.Ser123=) rs150381512 0.00064
NM_004287.5(GOSR2):c.72G>A (p.Thr24=) rs145772886 0.00036
NM_004287.5(GOSR2):c.29+8C>T rs573306680 0.00029
NM_004287.5(GOSR2):c.64C>T (p.Leu22=) rs770760366 0.00016
NM_004287.5(GOSR2):c.336+9G>A rs200210055 0.00013
NM_004287.5(GOSR2):c.336+14G>A rs201083529 0.00007
NM_004287.5(GOSR2):c.519C>T (p.Gly173=) rs552055294 0.00007
NM_004287.5(GOSR2):c.388C>T (p.Leu130Phe) rs137975476 0.00005
NM_004287.5(GOSR2):c.405C>T (p.Asn135=) rs753166413 0.00004
NM_004287.5(GOSR2):c.477+20A>T rs778488918 0.00004
NM_004287.5(GOSR2):c.447T>C (p.Asp149=) rs750298260 0.00003
NM_004287.5(GOSR2):c.29+9C>T rs951923133 0.00002
NM_004287.5(GOSR2):c.30-14T>C rs756098096 0.00002
NM_004287.5(GOSR2):c.336+13C>T rs562959681 0.00002
NM_004287.5(GOSR2):c.546C>T (p.Ile182=) rs1023140976 0.00002
NM_004287.5(GOSR2):c.576T>C (p.Phe192=) rs1433213435 0.00002
NM_004287.5(GOSR2):c.636A>G (p.Thr212=) rs990159762 0.00002
NM_004287.5(GOSR2):c.17A>G (p.Gln6Arg) rs749270151 0.00001
NM_004287.5(GOSR2):c.29+15G>T rs374396285 0.00001
NM_004287.5(GOSR2):c.30-15C>T rs750704163 0.00001
NM_004287.5(GOSR2):c.375G>A (p.Gln125=) rs768238866 0.00001
NM_004287.5(GOSR2):c.39C>T (p.His13=) rs747877774 0.00001
NM_004287.5(GOSR2):c.478-4C>G rs777442803 0.00001
NM_004287.5(GOSR2):c.94+12A>G rs369271685 0.00001
NM_004287.5(GOSR2):c.94+15G>A rs777596710 0.00001
NM_004287.5(GOSR2):c.*288_*296dup rs376212419
NM_004287.5(GOSR2):c.10C>T (p.Leu4=)
NM_004287.5(GOSR2):c.15C>T (p.Phe5=)
NM_004287.5(GOSR2):c.29+17G>A
NM_004287.5(GOSR2):c.30-10C>T rs2146849887
NM_004287.5(GOSR2):c.30-10_30-7del
NM_004287.5(GOSR2):c.30-12T>C
NM_004287.5(GOSR2):c.30-20C>T
NM_004287.5(GOSR2):c.30-4A>G
NM_004287.5(GOSR2):c.30-7T>A rs2146850100
NM_004287.5(GOSR2):c.30-8T>A rs925439682
NM_004287.5(GOSR2):c.336+17G>T rs2146914624
NM_004287.5(GOSR2):c.336+20A>C
NM_004287.5(GOSR2):c.336+7C>A
NM_004287.5(GOSR2):c.337-13_337-12del
NM_004287.5(GOSR2):c.337-6dup rs2146971287
NM_004287.5(GOSR2):c.363C>T (p.Asp121=) rs886053078
NM_004287.5(GOSR2):c.381C>T (p.Asn127=) rs761272920
NM_004287.5(GOSR2):c.390C>T (p.Leu130=)
NM_004287.5(GOSR2):c.435C>T (p.His145=) rs1599020227
NM_004287.5(GOSR2):c.478-14C>T rs1203026971
NM_004287.5(GOSR2):c.478-6C>T
NM_004287.5(GOSR2):c.480G>T (p.Gly160=)
NM_004287.5(GOSR2):c.525C>T (p.Ser175=) rs2147050274
NM_004287.5(GOSR2):c.528C>T (p.Asn176=) rs2088817717
NM_004287.5(GOSR2):c.609C>T (p.Val203=)
NM_004287.5(GOSR2):c.618C>T (p.Leu206=)
NM_004287.5(GOSR2):c.631C>T (p.Leu211=) rs2147052221
NM_004287.5(GOSR2):c.6T>C (p.Asp2=) rs757594881
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_004287.5(GOSR2):c.94+12A>T
NM_004287.5(GOSR2):c.94+16_94+17del rs780992578
NM_004287.5(GOSR2):c.9C>G (p.Pro3=) rs750589437

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.