ClinVar Miner

List of variants studied for Epilepsy, progressive myoclonic 7

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Total variants: 107
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HGVS dbSNP
NC_000011.10:g.(?_17735983)_(17781754_?)dup rs0
NM_001112741.1(KCNC1):c.1017A>C (p.Arg339=) rs137989254
NM_001112741.1(KCNC1):c.1065C>T (p.Gly355=) rs533816804
NM_001112741.1(KCNC1):c.1154A>C (p.Lys385Thr) rs1554991360
NM_001112741.1(KCNC1):c.121G>A (p.Asp41Asn) rs1192156090
NM_001112741.1(KCNC1):c.1236C>T (p.Ser412=) rs73424033
NM_001112741.1(KCNC1):c.1261G>A (p.Ala421Thr) rs1565162836
NM_001112741.1(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001112741.1(KCNC1):c.1269G>A (p.Ala423=) rs150682385
NM_001112741.1(KCNC1):c.1287C>A (p.Ala429=) rs139804857
NM_001112741.1(KCNC1):c.131G>A (p.Ser44Asn) rs773455390
NM_001112741.1(KCNC1):c.1399G>C (p.Gly467Arg) rs1477026732
NM_001112741.1(KCNC1):c.1421C>A (p.Ser474Tyr) rs1554991422
NM_001112741.1(KCNC1):c.1438C>A (p.His480Asn) rs1554991425
NM_001112741.1(KCNC1):c.1450C>G (p.Gln484Glu) rs376505218
NM_001112741.1(KCNC1):c.1505-8G>A rs1353872876
NM_001112741.1(KCNC1):c.1505A>G (p.Asp502Gly) rs1590109843
NM_001112741.1(KCNC1):c.1518T>C (p.Asn506=) rs747283873
NM_001112741.1(KCNC1):c.1574C>T (p.Ala525Val) rs1169785679
NM_001112741.1(KCNC1):c.1584C>G (p.Pro528=) rs1044982783
NM_001112741.1(KCNC1):c.1585G>A (p.Asp529Asn) rs927483438
NM_001112741.1(KCNC1):c.1619G>A (p.Arg540His) rs375362627
NM_001112741.1(KCNC1):c.1625G>A (p.Arg542Lys) rs1021551048
NM_001112741.1(KCNC1):c.1627T>C (p.Tyr543His) rs775725087
NM_001112741.1(KCNC1):c.1630G>A (p.Gly544Arg) rs758088373
NM_001112741.1(KCNC1):c.1653C>T (p.Thr551=) rs368328020
NM_001112741.1(KCNC1):c.1654G>A (p.Gly552Arg) rs755386451
NM_001112741.1(KCNC1):c.1659G>T (p.Glu553Asp) rs372580647
NM_001112741.1(KCNC1):c.1662C>T (p.Tyr554=) rs578025939
NM_001112741.1(KCNC1):c.1673C>G (p.Pro558Arg) rs749270474
NM_001112741.1(KCNC1):c.1681G>A (p.Gly561Arg) rs1417612823
NM_001112741.1(KCNC1):c.1739A>G (p.Glu580Gly) rs1284857169
NM_001112741.1(KCNC1):c.223A>G (p.Lys75Glu) rs1565152713
NM_001112741.1(KCNC1):c.394G>A (p.Asp132Asn) rs770445113
NM_001112741.1(KCNC1):c.421G>T (p.Asp141Tyr) rs376363769
NM_001112741.1(KCNC1):c.433G>C (p.Gly145Arg) rs759773311
NM_001112741.1(KCNC1):c.435C>T (p.Gly145=) rs767598381
NM_001112741.1(KCNC1):c.494C>T (p.Pro165Leu) rs749790557
NM_001112741.1(KCNC1):c.499G>T (p.Gly167Cys) rs1274575581
NM_001112741.1(KCNC1):c.51G>A (p.Thr17=) rs1423569470
NM_001112741.1(KCNC1):c.523C>T (p.Arg175Cys) rs1197911307
NM_001112741.1(KCNC1):c.554C>T (p.Ser185Leu) rs1565152898
NM_001112741.1(KCNC1):c.594C>T (p.Phe198=) rs371344625
NM_001112741.1(KCNC1):c.611T>C (p.Ile204Thr) rs1554991304
NM_001112741.1(KCNC1):c.636C>T (p.His212=) rs745968113
NM_001112741.1(KCNC1):c.654C>A (p.Ile218=) rs747207268
NM_001112741.1(KCNC1):c.677A>T (p.Asn226Ile) rs73424032
NM_001112741.1(KCNC1):c.683G>T (p.Arg228Leu) rs200873319
NM_001112741.1(KCNC1):c.691A>G (p.Thr231Ala) rs1565162623
NM_001112741.1(KCNC1):c.692C>T (p.Thr231Met) rs1554991314
NM_001112741.1(KCNC1):c.696A>C (p.Gln232His) rs775885483
NM_001112741.1(KCNC1):c.701G>A (p.Arg234His) rs763794003
NM_001112741.1(KCNC1):c.709C>T (p.Arg237Trp) rs150993414
NM_001112741.1(KCNC1):c.72G>A (p.Ser24=) rs76929858
NM_001112741.1(KCNC1):c.744C>T (p.Ile248=) rs2229007
NM_001112741.1(KCNC1):c.788G>A (p.Arg263His) rs775163829
NM_001112741.1(KCNC1):c.831G>T (p.Ser277=) rs765494674
NM_001112741.1(KCNC1):c.933C>T (p.Arg311=) rs76882721
NM_001112741.1(KCNC1):c.959G>A (p.Arg320His) rs727502818
NM_001112741.1(KCNC1):c.96G>A (p.Thr32=) rs140637569
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter) rs0
NM_001112741.2(KCNC1):c.102C>A (p.Leu34=) rs370742331
NM_001112741.2(KCNC1):c.108del (p.Trp36fs) rs1590088831
NM_001112741.2(KCNC1):c.1119C>T (p.Pro373=) rs143960025
NM_001112741.2(KCNC1):c.114G>A (p.Ala38=) rs0
NM_001112741.2(KCNC1):c.11G>A (p.Gly4Glu) rs0
NM_001112741.2(KCNC1):c.120C>G (p.Pro40=) rs1590088845
NM_001112741.2(KCNC1):c.1223C>T (p.Pro408Leu) rs0
NM_001112741.2(KCNC1):c.1263G>A (p.Ala421=) rs915600389
NM_001112741.2(KCNC1):c.1266G>A (p.Leu422=) rs0
NM_001112741.2(KCNC1):c.1294G>C (p.Val432Leu) rs0
NM_001112741.2(KCNC1):c.1300G>C (p.Val434Leu) rs0
NM_001112741.2(KCNC1):c.1321A>T (p.Met441Leu) rs0
NM_001112741.2(KCNC1):c.133C>T (p.His45Tyr) rs0
NM_001112741.2(KCNC1):c.1370del (p.Lys457fs) rs1590106815
NM_001112741.2(KCNC1):c.138C>G (p.Phe46Leu) rs0
NM_001112741.2(KCNC1):c.1409A>G (p.Asn470Ser) rs0
NM_001112741.2(KCNC1):c.1421C>G (p.Ser474Cys) rs0
NM_001112741.2(KCNC1):c.1430A>G (p.Asn477Ser) rs0
NM_001112741.2(KCNC1):c.1451A>G (p.Gln484Arg) rs770586397
NM_001112741.2(KCNC1):c.1504G>A (p.Asp502Asn) rs0
NM_001112741.2(KCNC1):c.1529C>T (p.Ala510Val) rs0
NM_001112741.2(KCNC1):c.1534G>C (p.Ala512Pro) rs0
NM_001112741.2(KCNC1):c.1538C>T (p.Ala513Val) rs0
NM_001112741.2(KCNC1):c.1610C>T (p.Ser537Leu) rs0
NM_001112741.2(KCNC1):c.1621G>C (p.Glu541Gln) rs0
NM_001112741.2(KCNC1):c.1660T>G (p.Tyr554Asp) rs0
NM_001112741.2(KCNC1):c.1663G>A (p.Ala555Thr) rs0
NM_001112741.2(KCNC1):c.1673C>T (p.Pro558Leu) rs0
NM_001112741.2(KCNC1):c.1729A>C (p.Met577Leu) rs0
NM_001112741.2(KCNC1):c.282G>T (p.Trp94Cys) rs0
NM_001112741.2(KCNC1):c.327C>T (p.Tyr109=) rs1590088932
NM_001112741.2(KCNC1):c.402G>A (p.Ala134=) rs1590089002
NM_001112741.2(KCNC1):c.409G>A (p.Asp137Asn) rs0
NM_001112741.2(KCNC1):c.441C>G (p.Asp147Glu) rs0
NM_001112741.2(KCNC1):c.486T>A (p.Asp162Glu) rs0
NM_001112741.2(KCNC1):c.497G>A (p.Gly166Asp) rs0
NM_001112741.2(KCNC1):c.548C>G (p.Pro183Arg) rs0
NM_001112741.2(KCNC1):c.679G>A (p.Val227Ile) rs0
NM_001112741.2(KCNC1):c.683G>A (p.Arg228His) rs0
NM_001112741.2(KCNC1):c.68G>A (p.Arg23His) rs0
NM_001112741.2(KCNC1):c.717C>T (p.Ala239=) rs143670270
NM_001112741.2(KCNC1):c.775G>A (p.Glu259Lys) rs0
NM_001112741.2(KCNC1):c.90C>A (p.Pro30=) rs0
NM_001112741.2(KCNC1):c.912G>A (p.Lys304=) rs114815696
NM_001112741.2(KCNC1):c.915C>T (p.Asp305=) rs757117157
NM_004976.4(KCNC1):c.1426G>A (p.Val476Ile) rs146311746

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