ClinVar Miner

List of variants in gene SNX27 studied for obsolete Dravet syndrome

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 352
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HGVS dbSNP gnomAD frequency
NM_001330723.2(SNX27):c.1155C>T (p.Val385=) rs115166911 0.00687
NM_001330723.2(SNX27):c.984T>C (p.Phe328=) rs150091333 0.00443
NM_001330723.2(SNX27):c.801+18T>A rs115780664 0.00365
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.986-20G>C rs199670160 0.00083
NM_001330723.2(SNX27):c.1427G>T (p.Arg476Leu) rs200106732 0.00020
NM_001330723.2(SNX27):c.1389+17G>A rs185748265 0.00017
NM_001330723.2(SNX27):c.1438G>C (p.Asp480His) rs145045028 0.00013
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.1329C>T (p.Ile443=) rs193058770 0.00010
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.1124T>G (p.Leu375Arg) rs749329909 0.00007
NM_001330723.2(SNX27):c.1150-4A>C rs746469264 0.00007
NM_001330723.2(SNX27):c.422A>T (p.Asp141Val) rs1300183081 0.00007
NM_001330723.2(SNX27):c.938C>T (p.Thr313Met) rs140922236 0.00007
NM_001330723.2(SNX27):c.1274A>G (p.Asn425Ser) rs768030688 0.00006
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.914C>T (p.Ala305Val) rs151014791 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.1118A>G (p.Asn373Ser) rs149636067 0.00004
NM_001330723.2(SNX27):c.1149+10T>C rs368706118 0.00004
NM_001330723.2(SNX27):c.1346C>T (p.Thr449Met) rs754928412 0.00004
NM_001330723.2(SNX27):c.1542C>T (p.Phe514=) rs761223156 0.00004
NM_001330723.2(SNX27):c.1571G>A (p.Arg524Lys) rs751866300 0.00004
NM_001330723.2(SNX27):c.1578+2_1578+3dup rs779581923 0.00004
NM_001330723.2(SNX27):c.676T>A (p.Ser226Thr) rs748735835 0.00004
NM_001330723.2(SNX27):c.801+19T>C rs552244633 0.00004
NM_001330723.2(SNX27):c.823G>A (p.Val275Ile) rs145927992 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.1154T>C (p.Val385Ala) rs534450090 0.00003
NM_001330723.2(SNX27):c.1240-3T>A rs1558078080 0.00003
NM_001330723.2(SNX27):c.1324G>A (p.Val442Ile) rs149937418 0.00003
NM_001330723.2(SNX27):c.1475G>A (p.Arg492Gln) rs1397864351 0.00003
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.898G>A (p.Val300Ile) rs749870596 0.00003
NM_001330723.2(SNX27):c.1025A>G (p.Tyr342Cys) rs954363272 0.00002
NM_001330723.2(SNX27):c.1147C>G (p.Gln383Glu) rs758891209 0.00002
NM_001330723.2(SNX27):c.1240-6T>C rs1033947503 0.00002
NM_001330723.2(SNX27):c.1247A>G (p.Asn416Ser) rs372894841 0.00002
NM_001330723.2(SNX27):c.1256G>A (p.Arg419Lys) rs1314203228 0.00002
NM_001330723.2(SNX27):c.1523A>G (p.Asn508Ser) rs753870444 0.00002
NM_001330723.2(SNX27):c.1578+118G>A rs143574605 0.00002
NM_001330723.2(SNX27):c.234G>A (p.Leu78=) rs763585979 0.00002
NM_001330723.2(SNX27):c.260G>C (p.Gly87Ala) rs1384033530 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.913G>A (p.Ala305Thr) rs778236794 0.00002
NM_001330723.2(SNX27):c.1024T>G (p.Tyr342Asp) rs1177213865 0.00001
NM_001330723.2(SNX27):c.1046C>A (p.Ala349Asp) rs771457853 0.00001
NM_001330723.2(SNX27):c.1150-3T>C rs776392332 0.00001
NM_001330723.2(SNX27):c.1181A>C (p.Lys394Thr) rs1558073082 0.00001
NM_001330723.2(SNX27):c.1218C>T (p.Tyr406=) rs201966711 0.00001
NM_001330723.2(SNX27):c.1235T>A (p.Val412Asp) rs778000318 0.00001
NM_001330723.2(SNX27):c.1258A>T (p.Thr420Ser) rs1399483139 0.00001
NM_001330723.2(SNX27):c.1283T>A (p.Ile428Asn) rs374866696 0.00001
NM_001330723.2(SNX27):c.1323C>T (p.His441=) rs758182367 0.00001
NM_001330723.2(SNX27):c.1348C>T (p.His450Tyr) rs747607305 0.00001
NM_001330723.2(SNX27):c.1390-4C>T rs1310809977 0.00001
NM_001330723.2(SNX27):c.1426C>T (p.Arg476Ter) rs1346732190 0.00001
NM_001330723.2(SNX27):c.1447G>A (p.Gly483Arg) rs543145513 0.00001
NM_001330723.2(SNX27):c.1465G>A (p.Glu489Lys) rs1400115897 0.00001
NM_001330723.2(SNX27):c.1578+18T>C rs781549825 0.00001
NM_001330723.2(SNX27):c.211A>G (p.Asn71Asp) rs1225201475 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.259G>C (p.Gly87Arg) rs750944911 0.00001
NM_001330723.2(SNX27):c.261G>T (p.Gly87=) rs1380455551 0.00001
NM_001330723.2(SNX27):c.263G>C (p.Gly88Ala) rs1231812552 0.00001
NM_001330723.2(SNX27):c.264G>T (p.Gly88=) rs369017951 0.00001
NM_001330723.2(SNX27):c.271G>T (p.Asp91Tyr) rs747022780 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.388T>A (p.Leu130Met) rs767929616 0.00001
NM_001330723.2(SNX27):c.406C>T (p.Pro136Ser) rs749569161 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.527A>G (p.Asn176Ser) rs377039099 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.703C>T (p.Arg235Ter) rs770358039 0.00001
NM_001330723.2(SNX27):c.731A>G (p.Glu244Gly) rs745573692 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.774G>A (p.Met258Ile) rs778326282 0.00001
NM_001330723.2(SNX27):c.786A>G (p.Leu262=) rs745510590 0.00001
NM_001330723.2(SNX27):c.796G>A (p.Asp266Asn) rs779687444 0.00001
NM_001330723.2(SNX27):c.801+15C>G rs777119235 0.00001
NM_001330723.2(SNX27):c.848A>G (p.Asp283Gly) rs776237861 0.00001
NM_001330723.2(SNX27):c.857C>T (p.Thr286Met) rs540042464 0.00001
NM_001330723.2(SNX27):c.862A>G (p.Thr288Ala) rs1198073102 0.00001
NM_001330723.2(SNX27):c.907-17A>G rs762930553 0.00001
NM_001330723.2(SNX27):c.935G>A (p.Ser312Asn) rs745875154 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.1048G>A (p.Val350Met) rs947126545
NM_001330723.2(SNX27):c.1063T>C (p.Leu355=)
NM_001330723.2(SNX27):c.1067C>A (p.Thr356Asn) rs1670315660
NM_001330723.2(SNX27):c.1072C>T (p.Arg358Ter)
NM_001330723.2(SNX27):c.1075A>G (p.Lys359Glu) rs2102695473
NM_001330723.2(SNX27):c.1092A>G (p.Thr364=) rs924761544
NM_001330723.2(SNX27):c.1096G>A (p.Glu366Lys)
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.1135T>C (p.Tyr379His)
NM_001330723.2(SNX27):c.1145A>G (p.His382Arg)
NM_001330723.2(SNX27):c.1145A>T (p.His382Leu)
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.1214T>C (p.Leu405Pro) rs1671055950
NM_001330723.2(SNX27):c.1215A>G (p.Leu405=) rs1217564237
NM_001330723.2(SNX27):c.1216T>C (p.Tyr406His)
NM_001330723.2(SNX27):c.1216_1217dup (p.Glu407fs) rs2102724265
NM_001330723.2(SNX27):c.1218C>G (p.Tyr406Ter) rs201966711
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>G (p.Met413Val) rs144336311
NM_001330723.2(SNX27):c.1237A>T (p.Met413Leu) rs144336311
NM_001330723.2(SNX27):c.1238T>C (p.Met413Thr) rs2102724392
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.1240-2A>G
NM_001330723.2(SNX27):c.1240-3T>C rs1558078080
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.1240-3_1240-2insTTA rs71093207
NM_001330723.2(SNX27):c.1240-3del
NM_001330723.2(SNX27):c.1240-3dup rs61159507
NM_001330723.2(SNX27):c.1240-4_1240-3del rs61159507
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.1246A>C (p.Asn416His) rs1388451146
NM_001330723.2(SNX27):c.1246A>G (p.Asn416Asp) rs1388451146
NM_001330723.2(SNX27):c.1252C>T (p.Leu418=) rs1671498343
NM_001330723.2(SNX27):c.1278A>T (p.Glu426Asp) rs1671499964
NM_001330723.2(SNX27):c.1282A>G (p.Ile428Val) rs1228574763
NM_001330723.2(SNX27):c.1287T>C (p.Phe429=) rs1230597000
NM_001330723.2(SNX27):c.1289C>T (p.Pro430Leu) rs1671500919
NM_001330723.2(SNX27):c.1290C>G (p.Pro430=)
NM_001330723.2(SNX27):c.1290C>T (p.Pro430=) rs764241666
NM_001330723.2(SNX27):c.1291C>T (p.His431Tyr) rs1487640435
NM_001330723.2(SNX27):c.1299C>G (p.Ala433=) rs1571880748
NM_001330723.2(SNX27):c.1310G>C (p.Arg437Thr) rs1558078260
NM_001330723.2(SNX27):c.1313G>A (p.Arg438Lys)
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.1356dup (p.Leu453fs) rs1553266166
NM_001330723.2(SNX27):c.1361A>G (p.His454Arg) rs2102743022
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.1431G>A (p.Trp477Ter) rs574654968
NM_001330723.2(SNX27):c.1443A>G (p.Glu481=)
NM_001330723.2(SNX27):c.1457T>C (p.Phe486Ser) rs2102743959
NM_001330723.2(SNX27):c.1474C>T (p.Arg492Ter)
NM_001330723.2(SNX27):c.1486A>C (p.Lys496Gln)
NM_001330723.2(SNX27):c.1492C>T (p.Arg498Ter)
NM_001330723.2(SNX27):c.1493G>A (p.Arg498Gln) rs1558078709
NM_001330723.2(SNX27):c.1495T>C (p.Trp499Arg) rs1245623181
NM_001330723.2(SNX27):c.1495T>G (p.Trp499Gly) rs1245623181
NM_001330723.2(SNX27):c.1512G>A (p.Thr504=)
NM_001330723.2(SNX27):c.1517A>G (p.Tyr506Cys) rs1553266278
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.1519-4dup rs540332829
NM_001330723.2(SNX27):c.1558G>A (p.Glu520Lys)
NM_001330723.2(SNX27):c.1560G>A (p.Glu520=)
NM_001330723.2(SNX27):c.1566G>A (p.Lys522=)
NM_001330723.2(SNX27):c.1574_1575del (p.Lys525fs)
NM_001330723.2(SNX27):c.1578+100G>T
NM_001330723.2(SNX27):c.1578+119_1578+122del rs748138783
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.211A>C (p.Asn71His) rs1225201475
NM_001330723.2(SNX27):c.213C>G (p.Asn71Lys) rs1341644365
NM_001330723.2(SNX27):c.217G>A (p.Glu73Lys)
NM_001330723.2(SNX27):c.219G>A (p.Glu73=)
NM_001330723.2(SNX27):c.232C>T (p.Leu78=)
NM_001330723.2(SNX27):c.238C>G (p.His80Asp) rs1571741601
NM_001330723.2(SNX27):c.239A>T (p.His80Leu) rs753540643
NM_001330723.2(SNX27):c.247_248delinsTT (p.Ala83Phe) rs2102579047
NM_001330723.2(SNX27):c.259G>A (p.Gly87Arg) rs750944911
NM_001330723.2(SNX27):c.259G>T (p.Gly87Trp) rs750944911
NM_001330723.2(SNX27):c.265dup (p.Ala89fs) rs781657502
NM_001330723.2(SNX27):c.275G>T (p.Arg92Leu) rs768798077
NM_001330723.2(SNX27):c.279C>A (p.Ala93=) rs2102579203
NM_001330723.2(SNX27):c.292G>A (p.Gly98Arg) rs1667222276
NM_001330723.2(SNX27):c.298C>A (p.Arg100Ser) rs2102579246
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.317A>C (p.His106Pro) rs1668592005
NM_001330723.2(SNX27):c.323A>G (p.Asn108Ser) rs1004258589
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.437G>C (p.Ser146Thr)
NM_001330723.2(SNX27):c.446C>T (p.Ser149Leu)
NM_001330723.2(SNX27):c.450G>T (p.Leu150Phe) rs2102633311
NM_001330723.2(SNX27):c.455A>G (p.Gln152Arg) rs546091137
NM_001330723.2(SNX27):c.478A>G (p.Lys160Glu)
NM_001330723.2(SNX27):c.484G>A (p.Ala162Thr) rs2102633390
NM_001330723.2(SNX27):c.493A>C (p.Ile165Leu) rs1668605133
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+6T>C rs1571793465
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.548A>G (p.Tyr183Cys)
NM_001330723.2(SNX27):c.552T>C (p.Asn184=)
NM_001330723.2(SNX27):c.556del (p.Tyr186fs)
NM_001330723.2(SNX27):c.563C>G (p.Ala188Gly) rs2102676713
NM_001330723.2(SNX27):c.573G>A (p.Gln191=)
NM_001330723.2(SNX27):c.575T>A (p.Leu192Gln) rs1208840156
NM_001330723.2(SNX27):c.595G>C (p.Glu199Gln) rs1176950317
NM_001330723.2(SNX27):c.597G>A (p.Glu199=) rs2102676780
NM_001330723.2(SNX27):c.601G>A (p.Ala201Thr)
NM_001330723.2(SNX27):c.615G>A (p.Gln205=)
NM_001330723.2(SNX27):c.616A>G (p.Asn206Asp) rs2102676815
NM_001330723.2(SNX27):c.618C>T (p.Asn206=)
NM_001330723.2(SNX27):c.624G>A (p.Lys208=)
NM_001330723.2(SNX27):c.629_630del (p.Glu210fs) rs1669791515
NM_001330723.2(SNX27):c.632T>A (p.Phe211Tyr) rs1669791900
NM_001330723.2(SNX27):c.652C>T (p.Arg218Ter) rs2102676931
NM_001330723.2(SNX27):c.653G>A (p.Arg218Gln) rs2102676934
NM_001330723.2(SNX27):c.656T>C (p.Leu219Pro) rs1669792785
NM_001330723.2(SNX27):c.657C>T (p.Leu219=)
NM_001330723.2(SNX27):c.660A>G (p.Pro220=) rs2102676952
NM_001330723.2(SNX27):c.701C>T (p.Ala234Val)
NM_001330723.2(SNX27):c.707G>A (p.Arg236His) rs1669794702
NM_001330723.2(SNX27):c.715T>C (p.Leu239=)
NM_001330723.2(SNX27):c.721G>A (p.Glu241Lys)
NM_001330723.2(SNX27):c.726T>C (p.Tyr242=)
NM_001330723.2(SNX27):c.727C>T (p.Leu243=)
NM_001330723.2(SNX27):c.737-15_737-10del
NM_001330723.2(SNX27):c.737-4A>G
NM_001330723.2(SNX27):c.752T>G (p.Val251Gly) rs753881769
NM_001330723.2(SNX27):c.755T>C (p.Ile252Thr) rs1669930051
NM_001330723.2(SNX27):c.756T>C (p.Ile252=) rs1669930261
NM_001330723.2(SNX27):c.775C>A (p.Gln259Lys)
NM_001330723.2(SNX27):c.795C>T (p.Ser265=)
NM_001330723.2(SNX27):c.801+19del rs2102681542
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.820G>A (p.Asp274Asn) rs749266618
NM_001330723.2(SNX27):c.828G>C (p.Glu276Asp) rs1669991535
NM_001330723.2(SNX27):c.838G>A (p.Ala280Thr)
NM_001330723.2(SNX27):c.840A>G (p.Ala280=)
NM_001330723.2(SNX27):c.844_846dup (p.Pro282_Asp283insPro)
NM_001330723.2(SNX27):c.857C>A (p.Thr286Lys) rs540042464
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.873del (p.Lys293fs) rs1669994959
NM_001330723.2(SNX27):c.882C>A (p.Asn294Lys)
NM_001330723.2(SNX27):c.883A>G (p.Ser295Gly) rs754578785
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.908C>G (p.Ala303Gly)
NM_001330723.2(SNX27):c.908C>T (p.Ala303Val) rs751034029
NM_001330723.2(SNX27):c.913G>T (p.Ala305Ser) rs778236794
NM_001330723.2(SNX27):c.921G>C (p.Lys307Asn) rs1670171559
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.977dup (p.His326fs) rs2102690228
NM_001330723.2(SNX27):c.980C>T (p.Ser327Phe) rs1571844623
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.986-3T>C
NM_001330723.2(SNX27):c.988C>T (p.Arg330Cys)
NM_001330723.2(SNX27):c.994T>C (p.Leu332=)
NM_001330723.2(SNX27):c.997G>C (p.Ala333Pro)

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