ClinVar Miner

List of variants in gene CNTN2 studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP
NM_005076.5(CNTN2):c.1034G>A (p.Arg345His)
NM_005076.5(CNTN2):c.105C>T (p.Phe35=) rs147074435
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser) rs371816961
NM_005076.5(CNTN2):c.1115G>A (p.Arg372Gln) rs1223229519
NM_005076.5(CNTN2):c.1171G>A (p.Gly391Ser)
NM_005076.5(CNTN2):c.1225G>A (p.Glu409Lys) rs1332074487
NM_005076.5(CNTN2):c.1241-3T>C rs200577280
NM_005076.5(CNTN2):c.1290G>A (p.Ala430=)
NM_005076.5(CNTN2):c.1295G>A (p.Arg432His)
NM_005076.5(CNTN2):c.1309C>G (p.Leu437Val) rs79431021
NM_005076.5(CNTN2):c.1344C>T (p.Ala448=) rs778178054
NM_005076.5(CNTN2):c.1367C>T (p.Thr456Met)
NM_005076.5(CNTN2):c.1392-6C>T rs749779814
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556
NM_005076.5(CNTN2):c.1411G>A (p.Gly471Ser) rs191357187
NM_005076.5(CNTN2):c.1438C>T (p.Arg480Trp)
NM_005076.5(CNTN2):c.1439G>A (p.Arg480Gln)
NM_005076.5(CNTN2):c.1441T>C (p.Ser481Pro) rs1362090710
NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile) rs116647440
NM_005076.5(CNTN2):c.1495A>G (p.Ser499Gly)
NM_005076.5(CNTN2):c.1516C>A (p.Arg506=) rs114903768
NM_005076.5(CNTN2):c.1516C>T (p.Arg506Ter)
NM_005076.5(CNTN2):c.1555G>A (p.Asp519Asn)
NM_005076.5(CNTN2):c.158C>T (p.Thr53Met)
NM_005076.5(CNTN2):c.1695G>A (p.Val565=) rs148801784
NM_005076.5(CNTN2):c.1734G>A (p.Gln578=) rs200403480
NM_005076.5(CNTN2):c.1786G>A (p.Ala596Thr) rs556646437
NM_005076.5(CNTN2):c.178G>A (p.Ala60Thr) rs12076297
NM_005076.5(CNTN2):c.1820C>T (p.Pro607Leu)
NM_005076.5(CNTN2):c.184C>T (p.Arg62Cys)
NM_005076.5(CNTN2):c.186C>T (p.Arg62=) rs762058787
NM_005076.5(CNTN2):c.1896C>T (p.Phe632=) rs145918837
NM_005076.5(CNTN2):c.1915G>A (p.Ala639Thr)
NM_005076.5(CNTN2):c.1963C>G (p.Gln655Glu) rs1262628184
NM_005076.5(CNTN2):c.1969C>T (p.Arg657Trp) rs2305276
NM_005076.5(CNTN2):c.1975A>G (p.Asn659Asp) rs41264871
NM_005076.5(CNTN2):c.1986C>A (p.Asn662Lys)
NM_005076.5(CNTN2):c.2002G>A (p.Glu668Lys)
NM_005076.5(CNTN2):c.2026A>G (p.Thr676Ala)
NM_005076.5(CNTN2):c.2032T>A (p.Trp678Arg) rs1553347245
NM_005076.5(CNTN2):c.2104A>G (p.Lys702Glu)
NM_005076.5(CNTN2):c.2132C>T (p.Ser711Leu) rs114879710
NM_005076.5(CNTN2):c.215+6G>C rs370377460
NM_005076.5(CNTN2):c.2155G>A (p.Gly719Arg) rs144056952
NM_005076.5(CNTN2):c.2163T>C (p.Gly721=) rs756031843
NM_005076.5(CNTN2):c.223A>G (p.Met75Val)
NM_005076.5(CNTN2):c.2340C>G (p.Pro780=) rs975647789
NM_005076.5(CNTN2):c.235G>A (p.Glu79Lys)
NM_005076.5(CNTN2):c.2469G>A (p.Gly823=) rs138090348
NM_005076.5(CNTN2):c.2483A>G (p.Glu828Gly)
NM_005076.5(CNTN2):c.2506G>A (p.Val836Met)
NM_005076.5(CNTN2):c.2514G>C (p.Gln838His)
NM_005076.5(CNTN2):c.2544+3G>A
NM_005076.5(CNTN2):c.2583G>A (p.Ala861=) rs115143667
NM_005076.5(CNTN2):c.2608G>A (p.Asp870Asn) rs201107921
NM_005076.5(CNTN2):c.2629G>A (p.Gly877Ser)
NM_005076.5(CNTN2):c.2662G>A (p.Val888Met) rs775579054
NM_005076.5(CNTN2):c.2677C>T (p.Arg893Trp) rs149814483
NM_005076.5(CNTN2):c.2686A>T (p.Thr896Ser)
NM_005076.5(CNTN2):c.2741G>A (p.Arg914Gln)
NM_005076.5(CNTN2):c.2879C>T (p.Thr960Met)
NM_005076.5(CNTN2):c.2886C>T (p.His962=) rs56111335
NM_005076.5(CNTN2):c.2922T>G (p.Pro974=) rs116036521
NM_005076.5(CNTN2):c.2964G>A (p.Gly988=) rs566959580
NM_005076.5(CNTN2):c.297C>T (p.Asn99=) rs9787172
NM_005076.5(CNTN2):c.3013+6G>C
NM_005076.5(CNTN2):c.3038T>C (p.Met1013Thr)
NM_005076.5(CNTN2):c.3050C>T (p.Pro1017Leu)
NM_005076.5(CNTN2):c.3066C>T (p.Gly1022=)
NM_005076.5(CNTN2):c.3092T>C (p.Met1031Thr)
NM_005076.5(CNTN2):c.358G>A (p.Val120Ile) rs1424524492
NM_005076.5(CNTN2):c.423C>T (p.Asp141=) rs774281069
NM_005076.5(CNTN2):c.424C>T (p.Pro142Ser)
NM_005076.5(CNTN2):c.504del (p.Trp168fs) rs398122387
NM_005076.5(CNTN2):c.505C>T (p.Leu169Phe) rs142502980
NM_005076.5(CNTN2):c.513C>T (p.Asn171=) rs371187600
NM_005076.5(CNTN2):c.514G>A (p.Glu172Lys) rs763168456
NM_005076.5(CNTN2):c.536C>T (p.Thr179Met) rs376459307
NM_005076.5(CNTN2):c.552C>T (p.Phe184=) rs777614226
NM_005076.5(CNTN2):c.586C>T (p.Arg196Ter) rs537026414
NM_005076.5(CNTN2):c.609C>T (p.Gly203=) rs762080946
NM_005076.5(CNTN2):c.635A>T (p.His212Leu) rs1558542528
NM_005076.5(CNTN2):c.63C>T (p.Ser21=) rs149630443
NM_005076.5(CNTN2):c.689C>T (p.Ala230Val) rs138454536
NM_005076.5(CNTN2):c.704G>A (p.Arg235Gln) rs2229867
NM_005076.5(CNTN2):c.745A>G (p.Thr249Ala) rs1191773782
NM_005076.5(CNTN2):c.792T>G (p.Phe264Leu) rs183799891
NM_005076.5(CNTN2):c.820C>T (p.Arg274Cys) rs1473353987
NM_005076.5(CNTN2):c.821G>A (p.Arg274His) rs200893856
NM_005076.5(CNTN2):c.913G>C (p.Glu305Gln)
NM_005076.5(CNTN2):c.947C>T (p.Thr316Ile) rs139732336
NM_005076.5(CNTN2):c.949G>A (p.Val317Met)

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