ClinVar Miner

List of variants studied for Severe myoclonic epilepsy in infancy by Invitae

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ClinVar version:
Total variants: 181
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HGVS dbSNP
NC_000001.10:g.(?_151122490)_(151585008_?)dup
NM_001330723.2(SNX27):c.1017C>T (p.His339=)
NM_001330723.2(SNX27):c.1024T>G (p.Tyr342Asp)
NM_001330723.2(SNX27):c.1025A>G (p.Tyr342Cys)
NM_001330723.2(SNX27):c.1046C>A (p.Ala349Asp) rs771457853
NM_001330723.2(SNX27):c.1067C>A (p.Thr356Asn)
NM_001330723.2(SNX27):c.106_120del (p.Gly36_Gly40del)
NM_001330723.2(SNX27):c.1092A>G (p.Thr364=)
NM_001330723.2(SNX27):c.1107C>T (p.Leu369=)
NM_001330723.2(SNX27):c.110G>A (p.Gly37Glu)
NM_001330723.2(SNX27):c.1118A>G (p.Asn373Ser) rs149636067
NM_001330723.2(SNX27):c.1122C>T (p.Asp374=) rs1158496817
NM_001330723.2(SNX27):c.1124T>G (p.Leu375Arg)
NM_001330723.2(SNX27):c.1128T>C (p.Ala376=)
NM_001330723.2(SNX27):c.1147C>G (p.Gln383Glu) rs758891209
NM_001330723.2(SNX27):c.1149+10T>C rs368706118
NM_001330723.2(SNX27):c.1150-3T>C
NM_001330723.2(SNX27):c.1150-4A>C
NM_001330723.2(SNX27):c.1155C>T (p.Val385=) rs115166911
NM_001330723.2(SNX27):c.1156G>C (p.Asp386His) rs138859961
NM_001330723.2(SNX27):c.1170A>G (p.Lys390=) rs916854524
NM_001330723.2(SNX27):c.1181A>C (p.Lys394Thr) rs1558073082
NM_001330723.2(SNX27):c.1185A>C (p.Ala395=) rs1571868477
NM_001330723.2(SNX27):c.118G>A (p.Gly40Ser) rs1354158738
NM_001330723.2(SNX27):c.120C>T (p.Gly40=)
NM_001330723.2(SNX27):c.1214T>C (p.Leu405Pro)
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.1235T>A (p.Val412Asp)
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.1240-3T>A
NM_001330723.2(SNX27):c.1240-3T>C
NM_001330723.2(SNX27):c.1240-4_1240-3insCTT
NM_001330723.2(SNX27):c.1240-5_1240-4insCT
NM_001330723.2(SNX27):c.1240-6T>C rs1033947503
NM_001330723.2(SNX27):c.1246A>G (p.Asn416Asp) rs1388451146
NM_001330723.2(SNX27):c.1258A>T (p.Thr420Ser) rs1399483139
NM_001330723.2(SNX27):c.1274A>G (p.Asn425Ser) rs768030688
NM_001330723.2(SNX27):c.1278A>T (p.Glu426Asp)
NM_001330723.2(SNX27):c.1283T>A (p.Ile428Asn)
NM_001330723.2(SNX27):c.1287T>C (p.Phe429=) rs1230597000
NM_001330723.2(SNX27):c.1289C>T (p.Pro430Leu)
NM_001330723.2(SNX27):c.1299C>G (p.Ala433=) rs1571880748
NM_001330723.2(SNX27):c.130G>C (p.Val44Leu)
NM_001330723.2(SNX27):c.1310G>C (p.Arg437Thr) rs1558078260
NM_001330723.2(SNX27):c.1320G>A (p.Gly440=)
NM_001330723.2(SNX27):c.1323C>T (p.His441=) rs758182367
NM_001330723.2(SNX27):c.1324G>A (p.Val442Ile) rs149937418
NM_001330723.2(SNX27):c.1329C>T (p.Ile443=) rs193058770
NM_001330723.2(SNX27):c.1346C>T (p.Thr449Met) rs754928412
NM_001330723.2(SNX27):c.1347G>A (p.Thr449=)
NM_001330723.2(SNX27):c.1348C>T (p.His450Tyr)
NM_001330723.2(SNX27):c.1350C>T (p.His450=)
NM_001330723.2(SNX27):c.1356dup (p.Leu453fs) rs1553266166
NM_001330723.2(SNX27):c.1365C>T (p.Ala455=) rs555284794
NM_001330723.2(SNX27):c.138C>T (p.Ile46=)
NM_001330723.2(SNX27):c.1390-4C>T
NM_001330723.2(SNX27):c.141C>T (p.Val47=)
NM_001330723.2(SNX27):c.1427G>T (p.Arg476Leu) rs200106732
NM_001330723.2(SNX27):c.1438G>C (p.Asp480His)
NM_001330723.2(SNX27):c.1457T>C (p.Phe486Ser)
NM_001330723.2(SNX27):c.1464C>T (p.Phe488=) rs767464354
NM_001330723.2(SNX27):c.1465G>A (p.Glu489Lys) rs1400115897
NM_001330723.2(SNX27):c.1475G>A (p.Arg492Gln)
NM_001330723.2(SNX27):c.147C>T (p.Ser49=) rs1571741449
NM_001330723.2(SNX27):c.1493G>A (p.Arg498Gln) rs1558078709
NM_001330723.2(SNX27):c.1495T>C (p.Trp499Arg)
NM_001330723.2(SNX27):c.1517A>G (p.Tyr506Cys) rs1553266278
NM_001330723.2(SNX27):c.1518+10A>G rs745587168
NM_001330723.2(SNX27):c.1519-8T>C
NM_001330723.2(SNX27):c.1523A>G (p.Asn508Ser)
NM_001330723.2(SNX27):c.1571G>A (p.Arg524Lys)
NM_001330723.2(SNX27):c.1578+118G>A
NM_001330723.2(SNX27):c.1578+119_1578+122del
NM_001330723.2(SNX27):c.15C>G (p.Asp5Glu)
NM_001330723.2(SNX27):c.15C>T (p.Asp5=) rs1375319601
NM_001330723.2(SNX27):c.160G>A (p.Gly54Ser)
NM_001330723.2(SNX27):c.17G>A (p.Gly6Glu)
NM_001330723.2(SNX27):c.17G>T (p.Gly6Val)
NM_001330723.2(SNX27):c.189G>A (p.Glu63=)
NM_001330723.2(SNX27):c.18G>A (p.Gly6=) rs551180149
NM_001330723.2(SNX27):c.199C>T (p.Leu67=)
NM_001330723.2(SNX27):c.19G>A (p.Glu7Lys)
NM_001330723.2(SNX27):c.211A>G (p.Asn71Asp)
NM_001330723.2(SNX27):c.213C>G (p.Asn71Lys)
NM_001330723.2(SNX27):c.231G>A (p.Pro77=)
NM_001330723.2(SNX27):c.234G>A (p.Leu78=) rs763585979
NM_001330723.2(SNX27):c.238C>G (p.His80Asp) rs1571741601
NM_001330723.2(SNX27):c.240T>C (p.His80=)
NM_001330723.2(SNX27):c.249C>T (p.Ala83=) rs779378055
NM_001330723.2(SNX27):c.259G>T (p.Gly87Trp) rs750944911
NM_001330723.2(SNX27):c.260G>C (p.Gly87Ala)
NM_001330723.2(SNX27):c.261G>T (p.Gly87=)
NM_001330723.2(SNX27):c.263G>C (p.Gly88Ala)
NM_001330723.2(SNX27):c.264G>T (p.Gly88=)
NM_001330723.2(SNX27):c.265dup (p.Ala89fs) rs781657502
NM_001330723.2(SNX27):c.275G>T (p.Arg92Leu)
NM_001330723.2(SNX27):c.279C>A (p.Ala93=)
NM_001330723.2(SNX27):c.292G>A (p.Gly98Arg)
NM_001330723.2(SNX27):c.306G>C (p.Leu102=)
NM_001330723.2(SNX27):c.311+9C>T
NM_001330723.2(SNX27):c.317A>C (p.His106Pro)
NM_001330723.2(SNX27):c.318C>T (p.His106=) rs574875506
NM_001330723.2(SNX27):c.323A>G (p.Asn108Ser)
NM_001330723.2(SNX27):c.336G>C (p.Ala112=)
NM_001330723.2(SNX27):c.342C>T (p.His114=) rs777998061
NM_001330723.2(SNX27):c.345G>A (p.Lys115=)
NM_001330723.2(SNX27):c.364C>A (p.Arg122=)
NM_001330723.2(SNX27):c.388T>A (p.Leu130Met) rs767929616
NM_001330723.2(SNX27):c.396G>C (p.Val132=)
NM_001330723.2(SNX27):c.399A>G (p.Leu133=)
NM_001330723.2(SNX27):c.40C>A (p.Pro14Thr)
NM_001330723.2(SNX27):c.40C>T (p.Pro14Ser)
NM_001330723.2(SNX27):c.41C>T (p.Pro14Leu) rs965328686
NM_001330723.2(SNX27):c.422A>T (p.Asp141Val) rs1300183081
NM_001330723.2(SNX27):c.423T>C (p.Asp141=)
NM_001330723.2(SNX27):c.447G>A (p.Ser149=)
NM_001330723.2(SNX27):c.456A>G (p.Gln152=) rs774725804
NM_001330723.2(SNX27):c.493A>C (p.Ile165Leu)
NM_001330723.2(SNX27):c.49A>C (p.Asn17His)
NM_001330723.2(SNX27):c.527A>G (p.Asn176Ser)
NM_001330723.2(SNX27):c.528T>C (p.Asn176=)
NM_001330723.2(SNX27):c.53G>C (p.Gly18Ala)
NM_001330723.2(SNX27):c.543+6T>C rs1571793465
NM_001330723.2(SNX27):c.543+6_543+7insA rs778540185
NM_001330723.2(SNX27):c.546A>G (p.Val182=)
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.603T>C (p.Ala201=)
NM_001330723.2(SNX27):c.60CGG[5] (p.Gly25dup) rs567208173
NM_001330723.2(SNX27):c.60CGG[6] (p.Gly24_Gly25dup) rs567208173
NM_001330723.2(SNX27):c.621G>A (p.Leu207=) rs754801297
NM_001330723.2(SNX27):c.629_630del (p.Glu210fs)
NM_001330723.2(SNX27):c.632T>A (p.Phe211Tyr)
NM_001330723.2(SNX27):c.656T>C (p.Leu219Pro)
NM_001330723.2(SNX27):c.660A>G (p.Pro220=)
NM_001330723.2(SNX27):c.676T>A (p.Ser226Thr) rs748735835
NM_001330723.2(SNX27):c.69C>T (p.Gly23=) rs752312603
NM_001330723.2(SNX27):c.6G>T (p.Ala2=)
NM_001330723.2(SNX27):c.707G>A (p.Arg236His)
NM_001330723.2(SNX27):c.70G>T (p.Gly24Trp)
NM_001330723.2(SNX27):c.72G>A (p.Gly24=) rs1293704681
NM_001330723.2(SNX27):c.731A>G (p.Glu244Gly)
NM_001330723.2(SNX27):c.737-6C>T
NM_001330723.2(SNX27):c.73G>T (p.Gly25Trp) rs1558028277
NM_001330723.2(SNX27):c.752T>G (p.Val251Gly)
NM_001330723.2(SNX27):c.755T>C (p.Ile252Thr)
NM_001330723.2(SNX27):c.75G>A (p.Gly25=)
NM_001330723.2(SNX27):c.772A>G (p.Met258Val) rs146222009
NM_001330723.2(SNX27):c.786A>G (p.Leu262=) rs745510590
NM_001330723.2(SNX27):c.795C>A (p.Ser265=) rs772609394
NM_001330723.2(SNX27):c.796G>A (p.Asp266Asn) rs779687444
NM_001330723.2(SNX27):c.802-4C>T
NM_001330723.2(SNX27):c.812G>A (p.Gly271Asp)
NM_001330723.2(SNX27):c.816G>A (p.Val272=) rs552371418
NM_001330723.2(SNX27):c.819C>T (p.Ser273=)
NM_001330723.2(SNX27):c.820G>A (p.Asp274Asn)
NM_001330723.2(SNX27):c.822C>T (p.Asp274=) rs771189015
NM_001330723.2(SNX27):c.823G>A (p.Val275Ile)
NM_001330723.2(SNX27):c.828G>C (p.Glu276Asp)
NM_001330723.2(SNX27):c.848A>G (p.Asp283Gly) rs776237861
NM_001330723.2(SNX27):c.857C>A (p.Thr286Lys)
NM_001330723.2(SNX27):c.857C>T (p.Thr286Met) rs540042464
NM_001330723.2(SNX27):c.862A>G (p.Thr288Ala) rs1198073102
NM_001330723.2(SNX27):c.873del (p.Lys293fs)
NM_001330723.2(SNX27):c.883A>G (p.Ser295Gly) rs754578785
NM_001330723.2(SNX27):c.908C>T (p.Ala303Val) rs751034029
NM_001330723.2(SNX27):c.912C>T (p.Ile304=)
NM_001330723.2(SNX27):c.913G>A (p.Ala305Thr) rs778236794
NM_001330723.2(SNX27):c.913G>T (p.Ala305Ser)
NM_001330723.2(SNX27):c.914C>T (p.Ala305Val)
NM_001330723.2(SNX27):c.921G>C (p.Lys307Asn)
NM_001330723.2(SNX27):c.92C>T (p.Ala31Val)
NM_001330723.2(SNX27):c.938C>T (p.Thr313Met) rs140922236
NM_001330723.2(SNX27):c.942A>G (p.Thr314=) rs1553261783
NM_001330723.2(SNX27):c.948T>C (p.Asn316=)
NM_001330723.2(SNX27):c.967G>A (p.Val323Met) rs61762678
NM_001330723.2(SNX27):c.980C>T (p.Ser327Phe)
NM_001330723.2(SNX27):c.984T>C (p.Phe328=) rs150091333
NM_001330723.2(SNX27):c.99C>T (p.Asn33=)

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