ClinVar Miner

List of variants in gene GOSR2, LRRC37A2 studied for Unverricht-Lundborg syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 188
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HGVS dbSNP gnomAD frequency
NM_004287.5(GOSR2):c.*301T>C rs8078556 0.93627
NM_004287.5(GOSR2):c.*2337T>C rs1052586 0.48306
NM_004287.5(GOSR2):c.*1519T>C rs4968286 0.44908
NM_004287.5(GOSR2):c.*1733A>G rs758392 0.41414
NM_004287.5(GOSR2):c.*1115G>A rs758391 0.38725
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.*1377G>A rs180777362 0.00573
NM_004287.5(GOSR2):c.*1679A>G rs149765350 0.00273
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys) rs113817924 0.00232
NM_004287.5(GOSR2):c.*2057C>T rs368549324 0.00180
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.*2336A>T rs569751775 0.00055
NM_004287.5(GOSR2):c.*1703A>G rs144662292 0.00053
NM_004287.5(GOSR2):c.72G>A (p.Thr24=) rs145772886 0.00036
NM_004287.5(GOSR2):c.*2192T>G rs545130658 0.00034
NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser) rs150907052 0.00031
NM_004287.5(GOSR2):c.29+8C>T rs573306680 0.00029
NM_004287.5(GOSR2):c.336+1G>A rs141554661 0.00026
NM_004287.5(GOSR2):c.*2291C>G rs186093347 0.00021
NM_004287.5(GOSR2):c.*1446A>T rs572361575 0.00016
NM_004287.5(GOSR2):c.64C>T (p.Leu22=) rs770760366 0.00016
NM_004287.5(GOSR2):c.94+7A>C rs376231923 0.00016
NM_004287.5(GOSR2):c.336+9G>A rs200210055 0.00013
NM_004287.5(GOSR2):c.552G>T (p.Lys184Asn) rs760846460 0.00012
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) rs387906881 0.00009
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.393G>T (p.Gln131His) rs182039780 0.00006
NM_004287.5(GOSR2):c.388C>T (p.Leu130Phe) rs137975476 0.00005
NM_004287.5(GOSR2):c.547G>A (p.Glu183Lys) rs144472114 0.00005
NM_004287.5(GOSR2):c.404A>G (p.Asn135Ser) rs765513191 0.00004
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.637T>C (p.Ter213Arg) rs1229223114 0.00004
NM_004287.5(GOSR2):c.80A>G (p.Lys27Arg) rs373000501 0.00004
NM_004287.5(GOSR2):c.*18G>T rs778066395 0.00003
NM_004287.5(GOSR2):c.*2253C>T rs886053085 0.00003
NM_004287.5(GOSR2):c.29+13C>T rs747791818 0.00003
NM_004287.5(GOSR2):c.340T>C (p.Ser114Pro) rs751635119 0.00003
NM_004287.5(GOSR2):c.447T>C (p.Asp149=) rs750298260 0.00003
NM_004287.5(GOSR2):c.510C>G (p.Asn170Lys) rs34572603 0.00003
NM_004287.5(GOSR2):c.538C>T (p.Arg180Trp) rs1305687118 0.00003
NM_004287.5(GOSR2):c.57G>A (p.Met19Ile) rs369247929 0.00003
NM_004287.5(GOSR2):c.619G>A (p.Val207Met) rs780839289 0.00003
NM_004287.5(GOSR2):c.71C>T (p.Thr24Met) rs528931142 0.00003
NM_004287.5(GOSR2):c.8C>A (p.Pro3His) rs1131691533 0.00003
NM_004287.5(GOSR2):c.*1277C>G rs577505377 0.00002
NM_004287.5(GOSR2):c.*2195C>A rs565638240 0.00002
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.563A>G (p.Gln188Arg) rs776748629 0.00002
NM_004287.5(GOSR2):c.576T>C (p.Phe192=) rs1433213435 0.00002
NM_004287.5(GOSR2):c.579G>A (p.Met193Ile) rs768377570 0.00002
NM_004287.5(GOSR2):c.636A>G (p.Thr212=) rs990159762 0.00002
NM_004287.5(GOSR2):c.68A>G (p.Glu23Gly) rs200071814 0.00002
NM_004287.5(GOSR2):c.94+5G>A rs754004382 0.00002
NM_004287.5(GOSR2):c.*2213G>T rs886053084 0.00001
NM_004287.5(GOSR2):c.*2589T>C rs886053087 0.00001
NM_004287.5(GOSR2):c.10C>G (p.Leu4Val) rs756276963 0.00001
NM_004287.5(GOSR2):c.14T>A (p.Phe5Tyr) rs897281647 0.00001
NM_004287.5(GOSR2):c.17A>G (p.Gln6Arg) rs749270151 0.00001
NM_004287.5(GOSR2):c.1A>G (p.Met1Val) rs879328855 0.00001
NM_004287.5(GOSR2):c.28A>G (p.Lys10Glu) rs1278419518 0.00001
NM_004287.5(GOSR2):c.29+15G>T rs374396285 0.00001
NM_004287.5(GOSR2):c.29+3G>A rs794726915 0.00001
NM_004287.5(GOSR2):c.30-15C>T rs750704163 0.00001
NM_004287.5(GOSR2):c.331A>G (p.Thr111Ala) rs780448159 0.00001
NM_004287.5(GOSR2):c.336C>T (p.Asn112=) rs755211944 0.00001
NM_004287.5(GOSR2):c.358A>G (p.Met120Val) rs769454681 0.00001
NM_004287.5(GOSR2):c.364G>A (p.Glu122Lys) rs374613085 0.00001
NM_004287.5(GOSR2):c.371T>C (p.Leu124Pro) rs1189596801 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.451C>G (p.Leu151Val) rs756144831 0.00001
NM_004287.5(GOSR2):c.478-4C>G rs777442803 0.00001
NM_004287.5(GOSR2):c.541C>G (p.Leu181Val) rs772342696 0.00001
NM_004287.5(GOSR2):c.553C>T (p.Arg185Trp) rs771037415 0.00001
NM_004287.5(GOSR2):c.55A>G (p.Met19Val) rs770329469 0.00001
NM_004287.5(GOSR2):c.56T>C (p.Met19Thr) rs374861039 0.00001
NM_004287.5(GOSR2):c.77A>G (p.Asp26Gly) rs773543394 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.94+4A>G rs796052540 0.00001
NM_004287.4(GOSR2):c.-64G>T rs886053076
NM_004287.5(GOSR2):c.*1105A>T rs780111337
NM_004287.5(GOSR2):c.*1711G>A rs11657819
NM_004287.5(GOSR2):c.*2068C>G rs886053082
NM_004287.5(GOSR2):c.*2190TC[2] rs553512648
NM_004287.5(GOSR2):c.*2573G>A rs886053086
NM_004287.5(GOSR2):c.*286G>T rs78693564
NM_004287.5(GOSR2):c.*288_*296dup rs376212419
NM_004287.5(GOSR2):c.*332A>G rs886053079
NM_004287.5(GOSR2):c.*412C>A rs886053080
NM_004287.5(GOSR2):c.*804A>G rs886053081
NM_004287.5(GOSR2):c.-12G>C rs183199
NM_004287.5(GOSR2):c.-20T>G rs886053077
NM_004287.5(GOSR2):c.-30G>C rs189899
NM_004287.5(GOSR2):c.-7C>G rs760018200
NM_004287.5(GOSR2):c.10C>T (p.Leu4=)
NM_004287.5(GOSR2):c.15C>G (p.Phe5Leu) rs2085950798
NM_004287.5(GOSR2):c.15C>T (p.Phe5=)
NM_004287.5(GOSR2):c.16C>T (p.Gln6Ter) rs2146691974
NM_004287.5(GOSR2):c.20A>G (p.Gln7Arg) rs2085951116
NM_004287.5(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004287.5(GOSR2):c.29+13C>A
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.31C>G (p.Gln11Glu) rs2146850344
NM_004287.5(GOSR2):c.320G>C (p.Arg107Pro) rs750960207
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.337-2A>G rs1568177307
NM_004287.5(GOSR2):c.337-6dup rs2146971287
NM_004287.5(GOSR2):c.350C>T (p.Thr117Ile) rs1599019391
NM_004287.5(GOSR2):c.354A>G (p.Ile118Met)
NM_004287.5(GOSR2):c.363C>T (p.Asp121=) rs886053078
NM_004287.5(GOSR2):c.374A>G (p.Gln125Arg)
NM_004287.5(GOSR2):c.380A>G (p.Asn127Ser)
NM_004287.5(GOSR2):c.381C>T (p.Asn127=) rs761272920
NM_004287.5(GOSR2):c.383C>A (p.Ser128Tyr)
NM_004287.5(GOSR2):c.390C>T (p.Leu130=)
NM_004287.5(GOSR2):c.397G>A (p.Val133Ile)
NM_004287.5(GOSR2):c.3G>A (p.Met1Ile) rs1174104260
NM_004287.5(GOSR2):c.3G>T (p.Met1Ile)
NM_004287.5(GOSR2):c.406G>A (p.Gly136Ser)
NM_004287.5(GOSR2):c.428A>T (p.Asp143Val) rs2088079257
NM_004287.5(GOSR2):c.432_449del (p.His145_Gly150del) rs1381386644
NM_004287.5(GOSR2):c.435C>T (p.His145=) rs1599020227
NM_004287.5(GOSR2):c.437A>G (p.Asn146Ser)
NM_004287.5(GOSR2):c.439A>G (p.Ile147Val) rs757363374
NM_004287.5(GOSR2):c.446A>G (p.Asp149Gly) rs2088083666
NM_004287.5(GOSR2):c.460_461dup (p.Gln154fs)
NM_004287.5(GOSR2):c.477+19del rs755765859
NM_004287.5(GOSR2):c.477+6G>T rs1568177911
NM_004287.5(GOSR2):c.478-14C>T rs1203026971
NM_004287.5(GOSR2):c.478-6C>T
NM_004287.5(GOSR2):c.478-7_478-6insAGAACAGAAG
NM_004287.5(GOSR2):c.478G>C (p.Gly160Arg)
NM_004287.5(GOSR2):c.47A>C (p.Gln16Pro) rs746688685
NM_004287.5(GOSR2):c.480G>T (p.Gly160=)
NM_004287.5(GOSR2):c.494T>C (p.Ile165Thr)
NM_004287.5(GOSR2):c.4G>A (p.Asp2Asn) rs1425442098
NM_004287.5(GOSR2):c.506C>G (p.Ala169Gly) rs2088814830
NM_004287.5(GOSR2):c.50C>T (p.Ser17Phe)
NM_004287.5(GOSR2):c.524C>A (p.Ser175Tyr)
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.539G>A (p.Arg180Gln) rs1348639194
NM_004287.5(GOSR2):c.557_584del (p.Ala186fs) rs796052541
NM_004287.5(GOSR2):c.568A>G (p.Lys190Glu) rs765094724
NM_004287.5(GOSR2):c.578T>C (p.Met193Thr) rs1328118330
NM_004287.5(GOSR2):c.596T>C (p.Leu199Pro)
NM_004287.5(GOSR2):c.609C>T (p.Val203=)
NM_004287.5(GOSR2):c.611T>G (p.Met204Arg) rs2147051685
NM_004287.5(GOSR2):c.618C>T (p.Leu206=)
NM_004287.5(GOSR2):c.619G>T (p.Val207Leu) rs780839289
NM_004287.5(GOSR2):c.631C>T (p.Leu211=) rs2147052221
NM_004287.5(GOSR2):c.634A>G (p.Thr212Ala) rs956070241
NM_004287.5(GOSR2):c.639A>G (p.Ter213Trp) rs2147052419
NM_004287.5(GOSR2):c.6T>A (p.Asp2Glu)
NM_004287.5(GOSR2):c.6T>C (p.Asp2=) rs757594881
NM_004287.5(GOSR2):c.79A>C (p.Lys27Gln) rs760997502
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_004287.5(GOSR2):c.7C>G (p.Pro3Ala) rs12944167
NM_004287.5(GOSR2):c.7C>T (p.Pro3Ser) rs12944167
NM_004287.5(GOSR2):c.82C>T (p.Gln28Ter) rs1466441723
NM_004287.5(GOSR2):c.89_90del (p.Val30fs) rs1330994397
NM_004287.5(GOSR2):c.92A>G (p.His31Arg)
NM_004287.5(GOSR2):c.94+12A>T
NM_004287.5(GOSR2):c.94+16_94+17del rs780992578
NM_004287.5(GOSR2):c.94A>G (p.Ile32Val) rs2086996915
NM_004287.5(GOSR2):c.9C>G (p.Pro3=) rs750589437

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