ClinVar Miner

List of variants studied for congenital myasthenic syndrome 13 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 229
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HGVS dbSNP gnomAD frequency
NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val) rs643788 0.38193
NM_001382.4(DPAGT1):c.918-18G>A rs145206990 0.00859
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
NM_001382.4(DPAGT1):c.918-5C>T rs191573465 0.00126
NM_001382.4(DPAGT1):c.573C>T (p.Asn191=) rs62641715 0.00117
NM_001382.4(DPAGT1):c.1161+16G>A rs201301096 0.00116
NM_001382.4(DPAGT1):c.918-4G>A rs201656540 0.00073
NM_001382.4(DPAGT1):c.643+11T>A rs185858377 0.00067
NM_001382.4(DPAGT1):c.330C>T (p.Phe110=) rs199994118 0.00061
NM_001382.4(DPAGT1):c.729-4A>C rs199873583 0.00041
NM_001382.4(DPAGT1):c.243C>T (p.Cys81=) rs138519099 0.00034
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr) rs375679649 0.00029
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln) rs112355069 0.00021
NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe) rs150532554 0.00019
NM_001382.4(DPAGT1):c.728+9G>A rs369353136 0.00014
NM_001382.4(DPAGT1):c.496+3A>G rs565154071 0.00012
NM_001382.4(DPAGT1):c.1154T>G (p.Leu385Arg) rs1016844949 0.00009
NM_001382.4(DPAGT1):c.717C>T (p.Leu239=) rs377263230 0.00008
NM_001382.4(DPAGT1):c.484C>A (p.His162Asn) rs542516384 0.00007
NM_001382.4(DPAGT1):c.351A>G (p.Val117=) rs146610900 0.00006
NM_001382.4(DPAGT1):c.671C>T (p.Ser224Phe) rs751590922 0.00006
NM_001382.4(DPAGT1):c.644-10G>A rs192269738 0.00005
NM_001382.4(DPAGT1):c.1139C>T (p.Thr380Ile) rs776720609 0.00004
NM_001382.4(DPAGT1):c.162-6C>T rs761454590 0.00004
NM_001382.4(DPAGT1):c.291C>G (p.Ala97=) rs756818317 0.00004
NM_001382.4(DPAGT1):c.33G>A (p.Leu11=) rs773853061 0.00004
NM_001382.4(DPAGT1):c.728+6T>C rs373170483 0.00004
NM_001382.4(DPAGT1):c.283-9C>T rs746355462 0.00003
NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile) rs376039938 0.00003
NM_001382.4(DPAGT1):c.496+17C>T rs749725470 0.00003
NM_001382.4(DPAGT1):c.644-15T>A rs749199504 0.00003
NM_001382.4(DPAGT1):c.918-8C>T rs531346717 0.00003
NM_001382.4(DPAGT1):c.1193G>A (p.Arg398Gln) rs747825322 0.00002
NM_001382.4(DPAGT1):c.14C>T (p.Ser5Leu) rs764519878 0.00002
NM_001382.4(DPAGT1):c.257A>T (p.Gln86Leu) rs751806317 0.00002
NM_001382.4(DPAGT1):c.270C>T (p.Phe90=) rs780625734 0.00002
NM_001382.4(DPAGT1):c.488T>C (p.Leu163Pro) rs772211450 0.00002
NM_001382.4(DPAGT1):c.497-5C>T rs556782038 0.00002
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) rs28934876 0.00002
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met) rs745872044 0.00002
NM_001382.4(DPAGT1):c.917+6C>T rs539220035 0.00002
NM_001382.4(DPAGT1):c.989G>A (p.Gly330Asp) rs780497256 0.00002
NM_001382.4(DPAGT1):c.1006-8C>G rs1357255095 0.00001
NM_001382.4(DPAGT1):c.1018C>T (p.Leu340Phe) rs376996734 0.00001
NM_001382.4(DPAGT1):c.1024C>G (p.Leu342Val) rs555841797 0.00001
NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg) rs1301940016 0.00001
NM_001382.4(DPAGT1):c.1134C>T (p.Asn378=) rs761911331 0.00001
NM_001382.4(DPAGT1):c.1141T>C (p.Leu381=) rs768805817 0.00001
NM_001382.4(DPAGT1):c.1161+10G>A rs761082821 0.00001
NM_001382.4(DPAGT1):c.1188C>T (p.Ser396=) rs747073447 0.00001
NM_001382.4(DPAGT1):c.1192C>T (p.Arg398Ter) rs187919120 0.00001
NM_001382.4(DPAGT1):c.1203C>T (p.Leu401=) rs746759603 0.00001
NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile) rs779911586 0.00001
NM_001382.4(DPAGT1):c.1210C>T (p.Leu404Phe) rs1272156856 0.00001
NM_001382.4(DPAGT1):c.1221T>C (p.Asp407=) rs772133269 0.00001
NM_001382.4(DPAGT1):c.1224C>T (p.Val408=) rs200588529 0.00001
NM_001382.4(DPAGT1):c.161+6C>T rs762402071 0.00001
NM_001382.4(DPAGT1):c.162-20C>T rs749879111 0.00001
NM_001382.4(DPAGT1):c.175G>A (p.Gly59Arg) rs1041735569 0.00001
NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu) rs1057521151 0.00001
NM_001382.4(DPAGT1):c.216C>T (p.Cys72=) rs1438468092 0.00001
NM_001382.4(DPAGT1):c.26dup (p.Met9fs) rs768656482 0.00001
NM_001382.4(DPAGT1):c.277C>G (p.His93Asp) rs1234809605 0.00001
NM_001382.4(DPAGT1):c.332T>G (p.Leu111Arg) rs759595271 0.00001
NM_001382.4(DPAGT1):c.34C>T (p.Leu12=) rs200991527 0.00001
NM_001382.4(DPAGT1):c.359T>A (p.Leu120Gln) rs368415403 0.00001
NM_001382.4(DPAGT1):c.360G>C (p.Leu120=) rs1555207826 0.00001
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys) rs746187785 0.00001
NM_001382.4(DPAGT1):c.412A>G (p.Met138Val) rs532412952 0.00001
NM_001382.4(DPAGT1):c.460C>T (p.Pro154Ser) rs1229553796 0.00001
NM_001382.4(DPAGT1):c.466C>T (p.Arg156Cys) rs762796464 0.00001
NM_001382.4(DPAGT1):c.470C>T (p.Pro157Leu) rs1328286236 0.00001
NM_001382.4(DPAGT1):c.471G>A (p.Pro157=) rs376528767 0.00001
NM_001382.4(DPAGT1):c.485A>G (p.His162Arg) rs775716973 0.00001
NM_001382.4(DPAGT1):c.495G>A (p.Leu165=) rs373632825 0.00001
NM_001382.4(DPAGT1):c.621C>T (p.Val207=) rs778726543 0.00001
NM_001382.4(DPAGT1):c.633A>G (p.Val211=) rs767551785 0.00001
NM_001382.4(DPAGT1):c.643+14G>C rs536452844 0.00001
NM_001382.4(DPAGT1):c.643+2T>C rs774754436 0.00001
NM_001382.4(DPAGT1):c.652C>T (p.Arg218Trp) rs1053302601 0.00001
NM_001382.4(DPAGT1):c.699dup (p.Thr234fs) rs397515321 0.00001
NM_001382.4(DPAGT1):c.714G>A (p.Leu238=) rs1371529040 0.00001
NM_001382.4(DPAGT1):c.729-10C>A rs1413156382 0.00001
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp) rs772988029 0.00001
NM_001382.4(DPAGT1):c.828A>G (p.Leu276=) rs780516960 0.00001
NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val) rs376322200 0.00001
NM_001382.4(DPAGT1):c.901C>T (p.Arg301Cys) rs776632995 0.00001
NM_001382.4(DPAGT1):c.902G>A (p.Arg301His) rs768416381 0.00001
NM_001382.4(DPAGT1):c.933A>G (p.Thr311=) rs1432186196 0.00001
NM_001382.4(DPAGT1):c.96C>T (p.Phe32=) rs779048359 0.00001
NC_000011.9:g.(?_118967698)_(119170501_?)del
NC_000011.9:g.(?_118967698)_(119170501_?)dup
NM_001382.4(DPAGT1):c.1004A>C (p.Lys335Thr) rs1946418638
NM_001382.4(DPAGT1):c.1005+1G>A
NM_001382.4(DPAGT1):c.1005+5C>T
NM_001382.4(DPAGT1):c.1005+6A>T rs1592225596
NM_001382.4(DPAGT1):c.1006-6C>T rs2134898608
NM_001382.4(DPAGT1):c.1007T>C (p.Val336Ala) rs1555207196
NM_001382.4(DPAGT1):c.1033G>A (p.Val345Ile)
NM_001382.4(DPAGT1):c.103C>T (p.His35Tyr)
NM_001382.4(DPAGT1):c.1044T>C (p.Ser348=)
NM_001382.4(DPAGT1):c.1050T>G (p.Thr350=)
NM_001382.4(DPAGT1):c.1051G>A (p.Glu351Lys) rs1475939080
NM_001382.4(DPAGT1):c.1059T>G (p.Gly353=) rs1946413563
NM_001382.4(DPAGT1):c.1099C>G (p.Leu367Val) rs980077282
NM_001382.4(DPAGT1):c.1101A>T (p.Leu367=) rs1442358846
NM_001382.4(DPAGT1):c.1117C>T (p.Pro373Ser) rs1210999092
NM_001382.4(DPAGT1):c.1142T>C (p.Leu381Ser) rs2134897889
NM_001382.4(DPAGT1):c.1158G>A (p.Leu386=) rs2134897849
NM_001382.4(DPAGT1):c.1161+15C>T rs775825050
NM_001382.4(DPAGT1):c.1161+18G>A
NM_001382.4(DPAGT1):c.1161+5G>A rs1946410970
NM_001382.4(DPAGT1):c.1161+9G>A rs1946410715
NM_001382.4(DPAGT1):c.1162-14A>G
NM_001382.4(DPAGT1):c.1162A>C (p.Ile388Leu) rs2134897349
NM_001382.4(DPAGT1):c.1164C>A (p.Ile388=)
NM_001382.4(DPAGT1):c.1180A>C (p.Thr394Pro) rs2134897273
NM_001382.4(DPAGT1):c.1200G>T (p.Gln400His)
NM_001382.4(DPAGT1):c.1207C>T (p.Arg403Ter)
NM_001382.4(DPAGT1):c.1208G>A (p.Arg403Gln)
NM_001382.4(DPAGT1):c.1219G>A (p.Asp407Asn) rs2134897091
NM_001382.4(DPAGT1):c.121C>A (p.Leu41Ile)
NM_001382.4(DPAGT1):c.121C>G (p.Leu41Val)
NM_001382.4(DPAGT1):c.14C>G (p.Ser5Trp)
NM_001382.4(DPAGT1):c.161+13A>G
NM_001382.4(DPAGT1):c.161+16C>T
NM_001382.4(DPAGT1):c.161+9C>T
NM_001382.4(DPAGT1):c.162-12G>A
NM_001382.4(DPAGT1):c.162-12G>C
NM_001382.4(DPAGT1):c.162-15G>A
NM_001382.4(DPAGT1):c.162-16T>C rs2134916538
NM_001382.4(DPAGT1):c.162-18C>G rs764930301
NM_001382.4(DPAGT1):c.162-18C>T
NM_001382.4(DPAGT1):c.162-20C>G rs749879111
NM_001382.4(DPAGT1):c.163C>G (p.Pro55Ala)
NM_001382.4(DPAGT1):c.170C>T (p.Ser57Phe)
NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser) rs1565766177
NM_001382.4(DPAGT1):c.215G>A (p.Cys72Tyr) rs1274896616
NM_001382.4(DPAGT1):c.222C>T (p.Ile74=)
NM_001382.4(DPAGT1):c.253G>A (p.Glu85Lys) rs781224323
NM_001382.4(DPAGT1):c.274C>G (p.His92Asp)
NM_001382.4(DPAGT1):c.276C>T (p.His92=) rs931405073
NM_001382.4(DPAGT1):c.282+12C>T
NM_001382.4(DPAGT1):c.282+17G>A rs1236626939
NM_001382.4(DPAGT1):c.282+20T>C
NM_001382.4(DPAGT1):c.283-13G>A
NM_001382.4(DPAGT1):c.283-17G>A
NM_001382.4(DPAGT1):c.283-3C>A
NM_001382.4(DPAGT1):c.283-5C>T
NM_001382.4(DPAGT1):c.285T>C (p.Phe95=)
NM_001382.4(DPAGT1):c.286G>T (p.Val96Leu)
NM_001382.4(DPAGT1):c.335G>T (p.Gly112Val) rs1946489072
NM_001382.4(DPAGT1):c.342G>C (p.Ala114=)
NM_001382.4(DPAGT1):c.348T>C (p.Asp116=) rs200885014
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile) rs387907243
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) rs1185483085
NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter) rs1315559074
NM_001382.4(DPAGT1):c.400C>G (p.Leu134Val) rs1946487222
NM_001382.4(DPAGT1):c.404C>T (p.Pro135Leu) rs2134913441
NM_001382.4(DPAGT1):c.406C>A (p.Leu136Ile) rs1946487020
NM_001382.4(DPAGT1):c.41A>G (p.Asn14Ser) rs373044813
NM_001382.4(DPAGT1):c.423C>G (p.Phe141Leu) rs1403883479
NM_001382.4(DPAGT1):c.425C>G (p.Thr142Ser)
NM_001382.4(DPAGT1):c.428A>G (p.Asn143Ser)
NM_001382.4(DPAGT1):c.441G>A (p.Thr147=)
NM_001382.4(DPAGT1):c.444C>T (p.Thr148=)
NM_001382.4(DPAGT1):c.448G>A (p.Val150Met) rs1555207796
NM_001382.4(DPAGT1):c.452T>A (p.Val151Glu)
NM_001382.4(DPAGT1):c.453G>A (p.Val151=)
NM_001382.4(DPAGT1):c.457A>C (p.Lys153Gln) rs1946485389
NM_001382.4(DPAGT1):c.462C>T (p.Pro154=)
NM_001382.4(DPAGT1):c.463T>G (p.Phe155Val) rs766131005
NM_001382.4(DPAGT1):c.466C>A (p.Arg156Ser)
NM_001382.4(DPAGT1):c.48C>T (p.Ile16=) rs1020413992
NM_001382.4(DPAGT1):c.497-4G>A rs771175893
NM_001382.4(DPAGT1):c.497-4G>C rs771175893
NM_001382.4(DPAGT1):c.574G>A (p.Gly192Ser) rs768464558
NM_001382.4(DPAGT1):c.575G>T (p.Gly192Val) rs2134911057
NM_001382.4(DPAGT1):c.592T>A (p.Ser198Thr)
NM_001382.4(DPAGT1):c.637T>C (p.Leu213=)
NM_001382.4(DPAGT1):c.643+17G>C
NM_001382.4(DPAGT1):c.644-12T>G
NM_001382.4(DPAGT1):c.644-18_644-15del rs750678639
NM_001382.4(DPAGT1):c.644-1G>T rs2134903748
NM_001382.4(DPAGT1):c.645T>C (p.Gly215=) rs2134903738
NM_001382.4(DPAGT1):c.660T>G (p.Asp220Glu) rs1386440899
NM_001382.4(DPAGT1):c.663T>C (p.His221=) rs755080683
NM_001382.4(DPAGT1):c.669T>C (p.Phe223=)
NM_001382.4(DPAGT1):c.678C>T (p.Tyr226=) rs1592226752
NM_001382.4(DPAGT1):c.681C>G (p.Phe227Leu)
NM_001382.4(DPAGT1):c.691T>C (p.Phe231Leu)
NM_001382.4(DPAGT1):c.693T>C (p.Phe231=)
NM_001382.4(DPAGT1):c.695T>C (p.Phe232Ser) rs1221039307
NM_001382.4(DPAGT1):c.6G>A (p.Trp2Ter) rs2134919748
NM_001382.4(DPAGT1):c.700A>G (p.Thr234Ala) rs2134903441
NM_001382.4(DPAGT1):c.710G>C (p.Gly237Ala)
NM_001382.4(DPAGT1):c.715C>T (p.Leu239Phe) rs765676413
NM_001382.4(DPAGT1):c.729-16C>G
NM_001382.4(DPAGT1):c.729-16C>T
NM_001382.4(DPAGT1):c.731A>G (p.Tyr244Cys)
NM_001382.4(DPAGT1):c.732C>A (p.Tyr244Ter)
NM_001382.4(DPAGT1):c.735A>G (p.Pro245=) rs1946429703
NM_001382.4(DPAGT1):c.744G>A (p.Val248=)
NM_001382.4(DPAGT1):c.750G>A (p.Val250=) rs2134901634
NM_001382.4(DPAGT1):c.762_765del (p.Cys255fs) rs2134901573
NM_001382.4(DPAGT1):c.76G>A (p.Val26Ile)
NM_001382.4(DPAGT1):c.773C>A (p.Ala258Asp) rs780944148
NM_001382.4(DPAGT1):c.77T>C (p.Val26Ala)
NM_001382.4(DPAGT1):c.789C>T (p.Ala263=)
NM_001382.4(DPAGT1):c.79del (p.Thr27fs)
NM_001382.4(DPAGT1):c.810C>T (p.His270=) rs1946427343
NM_001382.4(DPAGT1):c.81C>G (p.Thr27=) rs145055477
NM_001382.4(DPAGT1):c.822C>T (p.Thr274=) rs756625547
NM_001382.4(DPAGT1):c.850T>C (p.Phe284Leu)
NM_001382.4(DPAGT1):c.859C>T (p.Leu287Phe) rs1946426502
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe) rs397515328
NM_001382.4(DPAGT1):c.879C>T (p.Leu293=) rs1592226120
NM_001382.4(DPAGT1):c.888C>T (p.Ile296=)
NM_001382.4(DPAGT1):c.88C>T (p.Pro30Ser) rs1393162163
NM_001382.4(DPAGT1):c.908G>A (p.Arg303His) rs771322037
NM_001382.4(DPAGT1):c.908G>T (p.Arg303Leu)
NM_001382.4(DPAGT1):c.917+7G>A
NM_001382.4(DPAGT1):c.918-10C>A rs764154648
NM_001382.4(DPAGT1):c.918-15A>G
NM_001382.4(DPAGT1):c.930G>A (p.Lys310=) rs2134899492
NM_001382.4(DPAGT1):c.944A>G (p.Glu315Gly) rs1946419999
NM_001382.4(DPAGT1):c.976C>G (p.Leu326Val) rs755527720
NM_001382.4(DPAGT1):c.993C>T (p.Thr331=) rs1946418951
NM_001382.4(DPAGT1):c.9C>T (p.Ala3=)

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