ClinVar Miner

List of variants reported as uncertain significance for Compton-North congenital myopathy by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 214
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HGVS dbSNP gnomAD frequency
NM_001843.4(CNTN1):c.1369A>G (p.Asn457Asp) rs138213139 0.00027
NM_001843.4(CNTN1):c.1805-3C>T rs771301005 0.00016
NM_001843.4(CNTN1):c.643A>G (p.Ser215Gly) rs138639141 0.00015
NM_001843.4(CNTN1):c.1095G>T (p.Leu365Phe) rs151126410 0.00014
NM_001843.4(CNTN1):c.821G>A (p.Arg274Gln) rs374200408 0.00014
NM_001843.4(CNTN1):c.1006C>T (p.His336Tyr) rs200591895 0.00012
NM_001843.4(CNTN1):c.1024G>A (p.Val342Met) rs200139062 0.00012
NM_001843.4(CNTN1):c.2983G>A (p.Ala995Thr) rs143416044 0.00012
NM_001843.4(CNTN1):c.694A>G (p.Ile232Val) rs972742579 0.00009
NM_001843.4(CNTN1):c.2687T>C (p.Ile896Thr) rs771657279 0.00008
NM_001843.4(CNTN1):c.2183C>T (p.Ala728Val) rs201782849 0.00006
NM_001843.4(CNTN1):c.3031G>A (p.Gly1011Ser) rs200796487 0.00006
NM_001843.4(CNTN1):c.3037C>T (p.Leu1013Phe) rs201778720 0.00006
NM_001843.4(CNTN1):c.314A>G (p.Lys105Arg) rs773305634 0.00006
NM_001843.4(CNTN1):c.652A>G (p.Ile218Val) rs752293954 0.00006
NM_001843.4(CNTN1):c.730A>G (p.Ile244Val) rs149305190 0.00006
NM_001843.4(CNTN1):c.1444T>C (p.Tyr482His) rs769284324 0.00005
NM_001843.4(CNTN1):c.2426G>C (p.Ser809Thr) rs537681547 0.00005
NM_001843.4(CNTN1):c.2917G>A (p.Val973Ile) rs768847583 0.00005
NM_001843.4(CNTN1):c.1088G>A (p.Arg363Gln) rs769750595 0.00004
NM_001843.4(CNTN1):c.330A>T (p.Gly110=) rs150601046 0.00004
NM_001843.4(CNTN1):c.826C>T (p.Arg276Trp) rs144047921 0.00004
NM_001843.4(CNTN1):c.971G>A (p.Arg324Lys) rs148624625 0.00004
NM_001843.4(CNTN1):c.1466A>T (p.Asn489Ile) rs573923461 0.00003
NM_001843.4(CNTN1):c.1526T>C (p.Leu509Ser) rs973419081 0.00003
NM_001843.4(CNTN1):c.2002G>A (p.Ala668Thr) rs549628424 0.00003
NM_001843.4(CNTN1):c.2284C>T (p.Pro762Ser) rs566695601 0.00003
NM_001843.4(CNTN1):c.2788G>T (p.Ala930Ser) rs756665946 0.00003
NM_001843.4(CNTN1):c.495A>G (p.Pro165=) rs751830078 0.00003
NM_001843.4(CNTN1):c.733G>A (p.Val245Ile) rs1478025106 0.00003
NM_001843.4(CNTN1):c.1051C>T (p.Pro351Ser) rs769193585 0.00002
NM_001843.4(CNTN1):c.1140T>A (p.Asp380Glu) rs768371907 0.00002
NM_001843.4(CNTN1):c.1255C>A (p.Pro419Thr) rs758774084 0.00002
NM_001843.4(CNTN1):c.1631G>A (p.Gly544Asp) rs773805932 0.00002
NM_001843.4(CNTN1):c.1664A>G (p.His555Arg) rs761803826 0.00002
NM_001843.4(CNTN1):c.1691C>T (p.Ser564Phe) rs374678549 0.00002
NM_001843.4(CNTN1):c.2038C>T (p.Arg680Cys) rs1056153404 0.00002
NM_001843.4(CNTN1):c.2325C>A (p.Ser775Arg) rs538201110 0.00002
NM_001843.4(CNTN1):c.512G>A (p.Arg171His) rs201037986 0.00002
NM_001843.4(CNTN1):c.565G>C (p.Val189Leu) rs763318952 0.00002
NM_001843.4(CNTN1):c.1228+4A>G rs1183511907 0.00001
NM_001843.4(CNTN1):c.1229C>T (p.Ala410Val) rs896129454 0.00001
NM_001843.4(CNTN1):c.1285G>T (p.Gly429Cys) rs1465154174 0.00001
NM_001843.4(CNTN1):c.1358A>G (p.Glu453Gly) rs1946191168 0.00001
NM_001843.4(CNTN1):c.1508-3T>C rs768212555 0.00001
NM_001843.4(CNTN1):c.1508A>C (p.Asp503Ala) rs199754941 0.00001
NM_001843.4(CNTN1):c.1583C>T (p.Ala528Val) rs779551448 0.00001
NM_001843.4(CNTN1):c.1712G>A (p.Arg571Gln) rs142561108 0.00001
NM_001843.4(CNTN1):c.1813G>A (p.Gly605Ser) rs1172211353 0.00001
NM_001843.4(CNTN1):c.1814G>A (p.Gly605Asp) rs767086250 0.00001
NM_001843.4(CNTN1):c.1864C>T (p.Leu622Phe) rs755364145 0.00001
NM_001843.4(CNTN1):c.1876C>T (p.Arg626Cys) rs563858684 0.00001
NM_001843.4(CNTN1):c.1912A>G (p.Thr638Ala) rs778593974 0.00001
NM_001843.4(CNTN1):c.1950A>C (p.Lys650Asn) rs1393458031 0.00001
NM_001843.4(CNTN1):c.2005G>A (p.Val669Met) rs777561409 0.00001
NM_001843.4(CNTN1):c.2039G>A (p.Arg680His) rs770506056 0.00001
NM_001843.4(CNTN1):c.2041G>A (p.Val681Met) rs760051219 0.00001
NM_001843.4(CNTN1):c.2107G>A (p.Gly703Ser) rs370161709 0.00001
NM_001843.4(CNTN1):c.218C>T (p.Pro73Leu) rs1033656256 0.00001
NM_001843.4(CNTN1):c.2395G>A (p.Ala799Thr) rs1004191780 0.00001
NM_001843.4(CNTN1):c.2495T>C (p.Val832Ala) rs780316987 0.00001
NM_001843.4(CNTN1):c.2527C>T (p.Arg843Trp) rs1168401868 0.00001
NM_001843.4(CNTN1):c.2594C>T (p.Ser865Leu) rs761108267 0.00001
NM_001843.4(CNTN1):c.2626C>G (p.Gln876Glu) rs777846543 0.00001
NM_001843.4(CNTN1):c.265G>A (p.Asp89Asn) rs751205601 0.00001
NM_001843.4(CNTN1):c.2759G>A (p.Arg920His) rs761797408 0.00001
NM_001843.4(CNTN1):c.27T>A (p.His9Gln) rs745850349 0.00001
NM_001843.4(CNTN1):c.2813C>T (p.Thr938Met) rs141213968 0.00001
NM_001843.4(CNTN1):c.2998C>T (p.Pro1000Ser) rs771084573 0.00001
NM_001843.4(CNTN1):c.3010G>A (p.Gly1004Ser) rs745975456 0.00001
NM_001843.4(CNTN1):c.3047T>C (p.Leu1016Ser) rs766058382 0.00001
NM_001843.4(CNTN1):c.304A>C (p.Asn102His) rs749864561 0.00001
NM_001843.4(CNTN1):c.398G>A (p.Gly133Glu) rs755559017 0.00001
NM_001843.4(CNTN1):c.410C>T (p.Pro137Leu) rs184703177 0.00001
NM_001843.4(CNTN1):c.541A>G (p.Ile181Val) rs1481545617 0.00001
NM_001843.4(CNTN1):c.564T>A (p.Phe188Leu) rs775149768 0.00001
NM_001843.4(CNTN1):c.61+5G>A rs1944916936 0.00001
NM_001843.4(CNTN1):c.626A>T (p.Tyr209Phe) rs1229864034 0.00001
NM_001843.4(CNTN1):c.653T>C (p.Ile218Thr) rs1379159066 0.00001
NM_001843.4(CNTN1):c.726T>A (p.Ala242=) rs1180064251 0.00001
NM_001843.4(CNTN1):c.773A>G (p.Asn258Ser) rs139270901 0.00001
NM_001843.4(CNTN1):c.862A>G (p.Ile288Val) rs1458269504 0.00001
NM_001843.4(CNTN1):c.869C>T (p.Thr290Ile) rs1363438018 0.00001
NM_001843.4(CNTN1):c.901C>G (p.Gln301Glu) rs145955800 0.00001
NM_001843.4(CNTN1):c.985+6T>C rs202118617 0.00001
NC_000012.11:g.(?_41302215)_(41365335_?)dup
NC_000012.11:g.(?_41408010)_(41423041_?)del
NC_000012.12:g.(?_40691442)_(41073412_?)dup
NM_001843.4(CNTN1):c.1070A>C (p.Lys357Thr) rs2136929850
NM_001843.4(CNTN1):c.1078C>G (p.Pro360Ala)
NM_001843.4(CNTN1):c.107A>G (p.Asp36Gly)
NM_001843.4(CNTN1):c.1109C>T (p.Ala370Val) rs1451321171
NM_001843.4(CNTN1):c.1110+8T>A
NM_001843.4(CNTN1):c.1110G>A (p.Ala370=) rs770501938
NM_001843.4(CNTN1):c.1116T>G (p.His372Gln)
NM_001843.4(CNTN1):c.1190A>G (p.Tyr397Cys) rs1565989995
NM_001843.4(CNTN1):c.1249A>G (p.Met417Val) rs1946186464
NM_001843.4(CNTN1):c.1258A>G (p.Met420Val)
NM_001843.4(CNTN1):c.1259T>C (p.Met420Thr)
NM_001843.4(CNTN1):c.1271T>C (p.Ile424Thr) rs1269192212
NM_001843.4(CNTN1):c.1292G>A (p.Arg431Lys) rs756198153
NM_001843.4(CNTN1):c.1295T>A (p.Val432Glu)
NM_001843.4(CNTN1):c.1315A>G (p.Lys439Glu) rs748101740
NM_001843.4(CNTN1):c.131A>T (p.Glu44Val) rs1945329610
NM_001843.4(CNTN1):c.1381A>C (p.Ile461Leu) rs1337032945
NM_001843.4(CNTN1):c.1414A>C (p.Asn472His) rs1946336293
NM_001843.4(CNTN1):c.1415ACA[1] (p.Asn473del) rs2136950735
NM_001843.4(CNTN1):c.1442T>C (p.Ile481Thr) rs745586631
NM_001843.4(CNTN1):c.1508A>T (p.Asp503Val) rs199754941
NM_001843.4(CNTN1):c.1540G>A (p.Ala514Thr) rs1167071121
NM_001843.4(CNTN1):c.1564G>A (p.Ala522Thr)
NM_001843.4(CNTN1):c.160G>A (p.Glu54Lys) rs1945330731
NM_001843.4(CNTN1):c.1631G>T (p.Gly544Val)
NM_001843.4(CNTN1):c.1636G>C (p.Val546Leu)
NM_001843.4(CNTN1):c.1642G>A (p.Asp548Asn) rs1805062496
NM_001843.4(CNTN1):c.1681A>G (p.Met561Val) rs2136952998
NM_001843.4(CNTN1):c.1694A>G (p.Asn565Ser) rs747622764
NM_001843.4(CNTN1):c.1731T>G (p.His577Gln) rs770173257
NM_001843.4(CNTN1):c.1739G>A (p.Arg580Lys) rs1286090767
NM_001843.4(CNTN1):c.1754C>T (p.Ala585Val) rs2137007039
NM_001843.4(CNTN1):c.1757A>G (p.Gln586Arg)
NM_001843.4(CNTN1):c.1762A>G (p.Ile588Val) rs555223029
NM_001843.4(CNTN1):c.1789G>C (p.Asp597His)
NM_001843.4(CNTN1):c.1804+5G>A
NM_001843.4(CNTN1):c.1836A>G (p.Ile612Met) rs1592357953
NM_001843.4(CNTN1):c.1874G>T (p.Ser625Ile)
NM_001843.4(CNTN1):c.1895G>A (p.Ser632Asn) rs199886411
NM_001843.4(CNTN1):c.1921A>T (p.Thr641Ser) rs1555193694
NM_001843.4(CNTN1):c.1948A>G (p.Lys650Glu) rs1947806765
NM_001843.4(CNTN1):c.1966C>T (p.Pro656Ser) rs2120504473
NM_001843.4(CNTN1):c.1996G>T (p.Ala666Ser) rs1948132905
NM_001843.4(CNTN1):c.2035T>A (p.Phe679Ile)
NM_001843.4(CNTN1):c.203G>A (p.Arg68Gln) rs2136857338
NM_001843.4(CNTN1):c.20T>A (p.Val7Asp)
NM_001843.4(CNTN1):c.2140G>C (p.Gly714Arg)
NM_001843.4(CNTN1):c.2144G>A (p.Gly715Asp)
NM_001843.4(CNTN1):c.2153G>A (p.Gly718Glu)
NM_001843.4(CNTN1):c.2167C>G (p.Leu723Val)
NM_001843.4(CNTN1):c.2183C>A (p.Ala728Glu) rs201782849
NM_001843.4(CNTN1):c.2184G>A (p.Ala728=) rs764189993
NM_001843.4(CNTN1):c.221T>G (p.Val74Gly)
NM_001843.4(CNTN1):c.2246T>G (p.Phe749Cys)
NM_001843.4(CNTN1):c.2252G>A (p.Gly751Glu) rs1948790119
NM_001843.4(CNTN1):c.227A>G (p.Lys76Arg) rs1355732702
NM_001843.4(CNTN1):c.228-3_228-2del rs1945468731
NM_001843.4(CNTN1):c.2285C>G (p.Pro762Arg)
NM_001843.4(CNTN1):c.2294G>A (p.Gly765Asp) rs1555199605
NM_001843.4(CNTN1):c.2297G>A (p.Arg766Gln) rs267603461
NM_001843.4(CNTN1):c.2324G>T (p.Ser775Ile)
NM_001843.4(CNTN1):c.2365A>G (p.Asn789Asp) rs2120747529
NM_001843.4(CNTN1):c.2369A>C (p.Lys790Thr) rs771483189
NM_001843.4(CNTN1):c.2375A>T (p.Asp792Val) rs1250582749
NM_001843.4(CNTN1):c.2418C>T (p.Asp806=)
NM_001843.4(CNTN1):c.2495T>G (p.Val832Gly) rs780316987
NM_001843.4(CNTN1):c.2498T>C (p.Leu833Ser) rs1205621429
NM_001843.4(CNTN1):c.2510T>G (p.Val837Gly)
NM_001843.4(CNTN1):c.2523+5G>A
NM_001843.4(CNTN1):c.2524A>G (p.Ile842Val) rs2120816290
NM_001843.4(CNTN1):c.2530T>C (p.Tyr844His) rs781106271
NM_001843.4(CNTN1):c.2537C>T (p.Ala846Val) rs1390271155
NM_001843.4(CNTN1):c.2543A>C (p.His848Pro) rs769577018
NM_001843.4(CNTN1):c.2605G>A (p.Glu869Lys)
NM_001843.4(CNTN1):c.2620G>C (p.Asp874His)
NM_001843.4(CNTN1):c.262A>G (p.Ser88Gly) rs1945470430
NM_001843.4(CNTN1):c.2683A>C (p.Met895Leu) rs1253543758
NM_001843.4(CNTN1):c.269G>A (p.Arg90Gln)
NM_001843.4(CNTN1):c.2725C>G (p.Pro909Ala)
NM_001843.4(CNTN1):c.2758C>T (p.Arg920Cys)
NM_001843.4(CNTN1):c.2816G>T (p.Gly939Val) rs1248588484
NM_001843.4(CNTN1):c.281T>C (p.Val94Ala)
NM_001843.4(CNTN1):c.2854G>A (p.Gly952Ser)
NM_001843.4(CNTN1):c.2896A>G (p.Ile966Val)
NM_001843.4(CNTN1):c.2906A>G (p.Asp969Gly) rs1592428509
NM_001843.4(CNTN1):c.2930G>A (p.Arg977His)
NM_001843.4(CNTN1):c.3002G>A (p.Ser1001Asn)
NM_001843.4(CNTN1):c.3023C>T (p.Pro1008Leu) rs768617895
NM_001843.4(CNTN1):c.3037C>A (p.Leu1013Ile)
NM_001843.4(CNTN1):c.3050A>C (p.Glu1017Ala) rs2121173738
NM_001843.4(CNTN1):c.409C>G (p.Pro137Ala)
NM_001843.4(CNTN1):c.40T>A (p.Ser14Thr) rs145406782
NM_001843.4(CNTN1):c.428G>C (p.Arg143Pro) rs758820625
NM_001843.4(CNTN1):c.436G>A (p.Val146Ile)
NM_001843.4(CNTN1):c.43A>G (p.Ile15Val) rs1944915906
NM_001843.4(CNTN1):c.457G>C (p.Gly153Arg)
NM_001843.4(CNTN1):c.497-7C>A rs2136906588
NM_001843.4(CNTN1):c.499G>A (p.Asp167Asn) rs1285012875
NM_001843.4(CNTN1):c.49A>C (p.Thr17Pro)
NM_001843.4(CNTN1):c.512G>T (p.Arg171Leu) rs201037986
NM_001843.4(CNTN1):c.618A>C (p.Lys206Asn)
NM_001843.4(CNTN1):c.62A>G (p.Glu21Gly) rs2136817438
NM_001843.4(CNTN1):c.644G>A (p.Ser215Asn) rs1555182848
NM_001843.4(CNTN1):c.646C>T (p.Pro216Ser)
NM_001843.4(CNTN1):c.663C>G (p.Ser221Arg)
NM_001843.4(CNTN1):c.678C>A (p.Phe226Leu) rs868602241
NM_001843.4(CNTN1):c.68C>T (p.Thr23Ile)
NM_001843.4(CNTN1):c.692C>T (p.Pro231Leu)
NM_001843.4(CNTN1):c.695T>C (p.Ile232Thr) rs763560467
NM_001843.4(CNTN1):c.697C>G (p.Pro233Ala) rs1945827865
NM_001843.4(CNTN1):c.701_703dup (p.Glu234_Arg235insGln)
NM_001843.4(CNTN1):c.707C>A (p.Thr236Lys)
NM_001843.4(CNTN1):c.724G>A (p.Ala242Thr) rs758956439
NM_001843.4(CNTN1):c.751G>A (p.Val251Ile) rs2136919426
NM_001843.4(CNTN1):c.761T>G (p.Leu254Trp) rs1592279096
NM_001843.4(CNTN1):c.770A>G (p.Gln257Arg)
NM_001843.4(CNTN1):c.771A>G (p.Gln257=) rs2136919555
NM_001843.4(CNTN1):c.774T>G (p.Asn258Lys) rs1945970839
NM_001843.4(CNTN1):c.775G>A (p.Val259Met) rs1945970944
NM_001843.4(CNTN1):c.812C>T (p.Pro271Leu) rs1158555477
NM_001843.4(CNTN1):c.82T>C (p.Tyr28His) rs2136817543
NM_001843.4(CNTN1):c.907G>C (p.Glu303Gln) rs1487254662
NM_001843.4(CNTN1):c.908A>C (p.Glu303Ala) rs1283320182
NM_001843.4(CNTN1):c.919A>G (p.Ile307Val) rs756830197
NM_001843.4(CNTN1):c.94+4A>G
NM_001843.4(CNTN1):c.950G>A (p.Gly317Glu) rs1945984350

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