ClinVar Miner

List of variants in gene SNX27 reported as likely benign for Severe myoclonic epilepsy in infancy

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_001330723.2(SNX27):c.967G>A (p.Val323Met) rs61762678 0.00311
NM_001330723.2(SNX27):c.1156G>C (p.Asp386His) rs138859961 0.00188
NM_001330723.2(SNX27):c.1017C>T (p.His339=) rs376664632 0.00011
NM_001330723.2(SNX27):c.1347G>A (p.Thr449=) rs781281484 0.00011
NM_001330723.2(SNX27):c.1365C>T (p.Ala455=) rs555284794 0.00008
NM_001330723.2(SNX27):c.1519-8T>C rs375601770 0.00008
NM_001330723.2(SNX27):c.672A>G (p.Pro224=) rs777882451 0.00008
NM_001330723.2(SNX27):c.1150-4A>C rs746469264 0.00007
NM_001330723.2(SNX27):c.812G>A (p.Gly271Asp) rs748570559 0.00006
NM_001330723.2(SNX27):c.822C>T (p.Asp274=) rs771189015 0.00006
NM_001330723.2(SNX27):c.1464C>T (p.Phe488=) rs767464354 0.00005
NM_001330723.2(SNX27):c.396G>C (p.Val132=) rs756186623 0.00005
NM_001330723.2(SNX27):c.772A>G (p.Met258Val) rs146222009 0.00005
NM_001330723.2(SNX27):c.1149+10T>C rs368706118 0.00004
NM_001330723.2(SNX27):c.1542C>T (p.Phe514=) rs761223156 0.00004
NM_001330723.2(SNX27):c.801+19T>C rs552244633 0.00004
NM_001330723.2(SNX27):c.907-15C>T rs766328880 0.00004
NM_001330723.2(SNX27):c.912C>T (p.Ile304=) rs529966476 0.00004
NM_001330723.2(SNX27):c.231G>A (p.Pro77=) rs760263726 0.00003
NM_001330723.2(SNX27):c.240T>C (p.His80=) rs533724049 0.00003
NM_001330723.2(SNX27):c.447G>A (p.Ser149=) rs764587770 0.00003
NM_001330723.2(SNX27):c.621G>A (p.Leu207=) rs754801297 0.00003
NM_001330723.2(SNX27):c.1240-6T>C rs1033947503 0.00002
NM_001330723.2(SNX27):c.234G>A (p.Leu78=) rs763585979 0.00002
NM_001330723.2(SNX27):c.471C>T (p.Tyr157=) rs80102518 0.00002
NM_001330723.2(SNX27):c.795C>A (p.Ser265=) rs772609394 0.00002
NM_001330723.2(SNX27):c.802-15T>C rs1384108881 0.00002
NM_001330723.2(SNX27):c.802-4C>T rs373727297 0.00002
NM_001330723.2(SNX27):c.1218C>T (p.Tyr406=) rs201966711 0.00001
NM_001330723.2(SNX27):c.1323C>T (p.His441=) rs758182367 0.00001
NM_001330723.2(SNX27):c.1390-4C>T rs1310809977 0.00001
NM_001330723.2(SNX27):c.1578+18T>C rs781549825 0.00001
NM_001330723.2(SNX27):c.249C>T (p.Ala83=) rs779378055 0.00001
NM_001330723.2(SNX27):c.252G>C (p.Val84=) rs1415146870 0.00001
NM_001330723.2(SNX27):c.261G>T (p.Gly87=) rs1380455551 0.00001
NM_001330723.2(SNX27):c.264G>T (p.Gly88=) rs369017951 0.00001
NM_001330723.2(SNX27):c.318C>T (p.His106=) rs574875506 0.00001
NM_001330723.2(SNX27):c.336G>A (p.Ala112=) rs567918235 0.00001
NM_001330723.2(SNX27):c.342C>T (p.His114=) rs777998061 0.00001
NM_001330723.2(SNX27):c.345G>A (p.Lys115=) rs371439707 0.00001
NM_001330723.2(SNX27):c.441C>T (p.Asp147=) rs769491747 0.00001
NM_001330723.2(SNX27):c.456A>G (p.Gln152=) rs774725804 0.00001
NM_001330723.2(SNX27):c.543+6_543+7insA rs778540185 0.00001
NM_001330723.2(SNX27):c.546A>G (p.Val182=) rs1035538892 0.00001
NM_001330723.2(SNX27):c.603T>C (p.Ala201=) rs750670612 0.00001
NM_001330723.2(SNX27):c.737-13T>C rs752497304 0.00001
NM_001330723.2(SNX27):c.737-6C>T rs1030343321 0.00001
NM_001330723.2(SNX27):c.786A>G (p.Leu262=) rs745510590 0.00001
NM_001330723.2(SNX27):c.801+15C>G rs777119235 0.00001
NM_001330723.2(SNX27):c.907-17A>G rs762930553 0.00001
NM_001330723.2(SNX27):c.948T>C (p.Asn316=) rs780135529 0.00001
NM_001330723.2(SNX27):c.1005T>C (p.Asn335=)
NM_001330723.2(SNX27):c.1041A>G (p.Thr347=) rs113299731
NM_001330723.2(SNX27):c.1063T>C (p.Leu355=)
NM_001330723.2(SNX27):c.1092A>G (p.Thr364=) rs924761544
NM_001330723.2(SNX27):c.1107C>T (p.Leu369=) rs2102695552
NM_001330723.2(SNX27):c.1119T>C (p.Asn373=)
NM_001330723.2(SNX27):c.1122C>T (p.Asp374=) rs1158496817
NM_001330723.2(SNX27):c.1128T>C (p.Ala376=) rs1670318904
NM_001330723.2(SNX27):c.1149+15C>G
NM_001330723.2(SNX27):c.1149+18_1149+20del
NM_001330723.2(SNX27):c.1149+20T>A
NM_001330723.2(SNX27):c.1150-13G>C
NM_001330723.2(SNX27):c.1150-14T>C
NM_001330723.2(SNX27):c.1164G>T (p.Val388=)
NM_001330723.2(SNX27):c.1167G>A (p.Lys389=)
NM_001330723.2(SNX27):c.1170A>G (p.Lys390=) rs916854524
NM_001330723.2(SNX27):c.1176C>T (p.Tyr392=)
NM_001330723.2(SNX27):c.1185A>C (p.Ala395=) rs1571868477
NM_001330723.2(SNX27):c.1209G>A (p.Gln403=)
NM_001330723.2(SNX27):c.1215A>G (p.Leu405=) rs1217564237
NM_001330723.2(SNX27):c.1221A>G (p.Glu407=) rs1553264889
NM_001330723.2(SNX27):c.1227A>G (p.Arg409=)
NM_001330723.2(SNX27):c.1236C>T (p.Val412=) rs1476727417
NM_001330723.2(SNX27):c.1237A>T (p.Met413Leu) rs144336311
NM_001330723.2(SNX27):c.1240-12_1240-11insCTT
NM_001330723.2(SNX27):c.1240-13_1240-12insCT rs768575277
NM_001330723.2(SNX27):c.1240-13_1240-3del rs61159507
NM_001330723.2(SNX27):c.1240-14T>C
NM_001330723.2(SNX27):c.1240-14_1240-3del
NM_001330723.2(SNX27):c.1240-15_1240-3del rs61159507
NM_001330723.2(SNX27):c.1240-16_1240-3del
NM_001330723.2(SNX27):c.1240-17_1240-3del
NM_001330723.2(SNX27):c.1240-18_1240-3del
NM_001330723.2(SNX27):c.1240-19_1240-3del rs61159507
NM_001330723.2(SNX27):c.1240-3_1240-2insCTTT rs2102742377
NM_001330723.2(SNX27):c.1240-3_1240-2insTCTTT rs2102742377
NM_001330723.2(SNX27):c.1240-4_1240-3insCTT rs2102742370
NM_001330723.2(SNX27):c.1240-5_1240-4insCT rs1553266104
NM_001330723.2(SNX27):c.1240-6_1240-5insC rs1398540271
NM_001330723.2(SNX27):c.1252C>T (p.Leu418=) rs1671498343
NM_001330723.2(SNX27):c.1287T>C (p.Phe429=) rs1230597000
NM_001330723.2(SNX27):c.1290C>G (p.Pro430=)
NM_001330723.2(SNX27):c.1290C>T (p.Pro430=) rs764241666
NM_001330723.2(SNX27):c.1299C>G (p.Ala433=) rs1571880748
NM_001330723.2(SNX27):c.1320G>A (p.Gly440=) rs2102742887
NM_001330723.2(SNX27):c.1350C>T (p.His450=) rs2102742993
NM_001330723.2(SNX27):c.1362T>C (p.His454=)
NM_001330723.2(SNX27):c.1389+16A>G
NM_001330723.2(SNX27):c.1390-12T>C
NM_001330723.2(SNX27):c.1390-15G>T
NM_001330723.2(SNX27):c.1390-20C>T
NM_001330723.2(SNX27):c.1428A>G (p.Arg476=) rs1257250037
NM_001330723.2(SNX27):c.1443A>G (p.Glu481=)
NM_001330723.2(SNX27):c.1512G>A (p.Thr504=)
NM_001330723.2(SNX27):c.1518+10A>G rs745587168
NM_001330723.2(SNX27):c.1518+13T>C rs2102744187
NM_001330723.2(SNX27):c.1518+14G>A
NM_001330723.2(SNX27):c.1518+17G>A
NM_001330723.2(SNX27):c.1519-11T>A rs2102745003
NM_001330723.2(SNX27):c.1519-18C>T
NM_001330723.2(SNX27):c.1560G>A (p.Glu520=)
NM_001330723.2(SNX27):c.1566G>A (p.Lys522=)
NM_001330723.2(SNX27):c.1578+100G>T
NM_001330723.2(SNX27):c.1578+11A>G rs2102745179
NM_001330723.2(SNX27):c.1578+12C>T
NM_001330723.2(SNX27):c.1578+94A>G
NM_001330723.2(SNX27):c.219G>A (p.Glu73=)
NM_001330723.2(SNX27):c.232C>T (p.Leu78=)
NM_001330723.2(SNX27):c.279C>A (p.Ala93=) rs2102579203
NM_001330723.2(SNX27):c.304C>T (p.Leu102=)
NM_001330723.2(SNX27):c.306G>C (p.Leu102=) rs2102579271
NM_001330723.2(SNX27):c.311+11G>A
NM_001330723.2(SNX27):c.311+13G>A
NM_001330723.2(SNX27):c.311+15T>G
NM_001330723.2(SNX27):c.311+20G>A
NM_001330723.2(SNX27):c.311+20G>C
NM_001330723.2(SNX27):c.311+22_311+38dup rs2102579318
NM_001330723.2(SNX27):c.311+9C>T rs2102579294
NM_001330723.2(SNX27):c.312-14C>G
NM_001330723.2(SNX27):c.312-16C>G rs2102632909
NM_001330723.2(SNX27):c.312-4T>G
NM_001330723.2(SNX27):c.312-9T>C
NM_001330723.2(SNX27):c.336G>C (p.Ala112=) rs567918235
NM_001330723.2(SNX27):c.339A>C (p.Thr113=)
NM_001330723.2(SNX27):c.351G>C (p.Val117=)
NM_001330723.2(SNX27):c.360G>C (p.Leu120=)
NM_001330723.2(SNX27):c.364C>A (p.Arg122=) rs2102633073
NM_001330723.2(SNX27):c.369A>G (p.Ala123=)
NM_001330723.2(SNX27):c.378G>A (p.Lys126=)
NM_001330723.2(SNX27):c.399A>G (p.Leu133=) rs2102633155
NM_001330723.2(SNX27):c.423T>C (p.Asp141=) rs779863100
NM_001330723.2(SNX27):c.516T>C (p.His172=)
NM_001330723.2(SNX27):c.528T>C (p.Asn176=) rs2102633450
NM_001330723.2(SNX27):c.543+16A>G
NM_001330723.2(SNX27):c.543+19C>T
NM_001330723.2(SNX27):c.543+20G>A rs369005846
NM_001330723.2(SNX27):c.543+20G>T
NM_001330723.2(SNX27):c.543+9C>T rs1668607256
NM_001330723.2(SNX27):c.544-14T>C
NM_001330723.2(SNX27):c.544-4C>A
NM_001330723.2(SNX27):c.544-5A>G
NM_001330723.2(SNX27):c.552T>C (p.Asn184=)
NM_001330723.2(SNX27):c.573G>A (p.Gln191=)
NM_001330723.2(SNX27):c.597G>A (p.Glu199=) rs2102676780
NM_001330723.2(SNX27):c.615G>A (p.Gln205=)
NM_001330723.2(SNX27):c.618C>T (p.Asn206=)
NM_001330723.2(SNX27):c.624G>A (p.Lys208=)
NM_001330723.2(SNX27):c.657C>T (p.Leu219=)
NM_001330723.2(SNX27):c.660A>G (p.Pro220=) rs2102676952
NM_001330723.2(SNX27):c.715T>C (p.Leu239=)
NM_001330723.2(SNX27):c.726T>C (p.Tyr242=)
NM_001330723.2(SNX27):c.727C>T (p.Leu243=)
NM_001330723.2(SNX27):c.737-4A>G
NM_001330723.2(SNX27):c.756T>C (p.Ile252=) rs1669930261
NM_001330723.2(SNX27):c.795C>T (p.Ser265=)
NM_001330723.2(SNX27):c.801+20A>G
NM_001330723.2(SNX27):c.802-16A>C rs370297492
NM_001330723.2(SNX27):c.802-16A>G rs370297492
NM_001330723.2(SNX27):c.802-7C>A rs779668822
NM_001330723.2(SNX27):c.816G>A (p.Val272=) rs552371418
NM_001330723.2(SNX27):c.819C>T (p.Ser273=) rs191905305
NM_001330723.2(SNX27):c.840A>G (p.Ala280=)
NM_001330723.2(SNX27):c.858G>A (p.Thr286=)
NM_001330723.2(SNX27):c.858G>T (p.Thr286=)
NM_001330723.2(SNX27):c.864A>G (p.Thr288=)
NM_001330723.2(SNX27):c.870G>A (p.Arg290=)
NM_001330723.2(SNX27):c.906+16A>G
NM_001330723.2(SNX27):c.906+17C>T
NM_001330723.2(SNX27):c.907-16T>C rs369851379
NM_001330723.2(SNX27):c.907-6C>T
NM_001330723.2(SNX27):c.933C>T (p.Asp311=)
NM_001330723.2(SNX27):c.942A>G (p.Thr314=) rs1553261783
NM_001330723.2(SNX27):c.954T>C (p.Phe318=)
NM_001330723.2(SNX27):c.975T>C (p.Ser325=)
NM_001330723.2(SNX27):c.981C>T (p.Ser327=)
NM_001330723.2(SNX27):c.985+15C>G
NM_001330723.2(SNX27):c.985+8C>A
NM_001330723.2(SNX27):c.985+8C>T rs1370392842
NM_001330723.2(SNX27):c.986-13G>A
NM_001330723.2(SNX27):c.986-13_986-12del rs2102695222
NM_001330723.2(SNX27):c.994T>C (p.Leu332=)

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