ClinVar Miner

List of variants studied for Congenital myasthenic syndrome by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 246
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HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=) rs7111873 0.61686
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=) rs7126210 0.61595
NM_000080.4(CHRNE):c.1293C>T (p.Ala431=) rs33978919 0.18524
NM_005055.5(RAPSN):c.193-15C>T rs45547231 0.11254
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys) rs34312154 0.08810
NM_000080.4(CHRNE):c.1305A>G (p.Arg435=) rs55681486 0.07419
NM_000080.4(CHRNE):c.345-7C>T rs72835059 0.07330
NM_000080.4(CHRNE):c.1033-6C>T rs2075763 0.06582
NM_000080.4(CHRNE):c.519C>T (p.Ala173=) rs33970119 0.03958
NM_000080.4(CHRNE):c.-8G>A rs77481135 0.03561
NM_000080.4(CHRNE):c.53G>T (p.Gly18Val) rs4790235 0.02635
NM_000080.4(CHRNE):c.45C>T (p.Leu15=) rs34563587 0.02026
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu) rs57878668 0.01874
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln) rs34625105 0.01344
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=) rs114454383 0.00816
NM_000080.4(CHRNE):c.*6A>G rs55806270 0.00487
NM_000080.4(CHRNE):c.1220-5G>A rs188564977 0.00287
NM_000080.4(CHRNE):c.1425C>T (p.Leu475=) rs151193377 0.00197
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn) rs140996453 0.00138
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=) rs145456588 0.00133
NM_005055.5(RAPSN):c.474C>T (p.Asp158=) rs56245238 0.00114
NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln) rs139398367 0.00067
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile) rs35810986 0.00065
NM_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 0.00046
NM_005055.5(RAPSN):c.492C>T (p.Arg164=) rs146237774 0.00046
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr) rs146931108 0.00042
NM_000080.4(CHRNE):c.66C>T (p.Asn22=) rs55770091 0.00031
NM_005055.5(RAPSN):c.903G>A (p.Ala301=) rs56040810 0.00028
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala) rs199807050 0.00026
NM_000080.4(CHRNE):c.46+5G>A rs375802288 0.00025
NM_005055.5(RAPSN):c.776G>A (p.Arg259His) rs766051613 0.00024
NM_000080.4(CHRNE):c.1169G>C (p.Arg390Pro) rs568952207 0.00019
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=) rs757215612 0.00019
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val) rs201463598 0.00016
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=) rs149683345 0.00016
NM_000080.4(CHRNE):c.1327-3C>T rs749489742 0.00014
NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro) rs142735836 0.00014
NM_000080.4(CHRNE):c.1042G>A (p.Glu348Lys) rs757968612 0.00013
NM_000080.4(CHRNE):c.1183T>G (p.Phe395Val) rs755802710 0.00011
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993 0.00010
NM_005055.5(RAPSN):c.831C>T (p.Thr277=) rs148078235 0.00010
NM_005055.5(RAPSN):c.864G>A (p.Ala288=) rs147966227 0.00010
NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys) rs367565995 0.00009
NM_000080.4(CHRNE):c.1051C>T (p.Pro351Ser) rs964034772 0.00008
NM_000080.4(CHRNE):c.6A>G (p.Ala2=) rs202198207 0.00008
NM_000080.4(CHRNE):c.820A>G (p.Thr274Ala) rs774407731 0.00008
NM_005055.5(RAPSN):c.775C>T (p.Arg259Cys) rs150207592 0.00008
NM_000080.4(CHRNE):c.1446G>A (p.Val482=) rs376713095 0.00007
NM_005055.5(RAPSN):c.1189C>T (p.Arg397Trp) rs201796294 0.00007
NM_000080.4(CHRNE):c.1074G>A (p.Pro358=) rs745744138 0.00006
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=) rs767374241 0.00006
NM_000080.4(CHRNE):c.1262G>A (p.Arg421His) rs144952259 0.00006
NM_000080.4(CHRNE):c.1345C>T (p.Arg449Cys) rs149083639 0.00006
NM_000080.4(CHRNE):c.406G>A (p.Val136Met) rs773822199 0.00006
NM_000080.4(CHRNE):c.948G>A (p.Thr316=) rs144207552 0.00006
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_005055.5(RAPSN):c.690+10C>T rs78293924 0.00006
NM_005055.5(RAPSN):c.948C>T (p.Ala316=) rs374676714 0.00006
NM_000080.4(CHRNE):c.1103C>T (p.Pro368Leu) rs371919434 0.00005
NM_000080.4(CHRNE):c.1168C>T (p.Arg390Trp) rs140763858 0.00005
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met) rs570140663 0.00005
NM_005055.5(RAPSN):c.202G>A (p.Val68Ile) rs200892332 0.00005
NM_005055.5(RAPSN):c.215C>T (p.Thr72Met) rs770633491 0.00005
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg) rs150756111 0.00005
NM_005055.5(RAPSN):c.690+4G>A rs201803329 0.00005
NM_005055.5(RAPSN):c.949G>A (p.Glu317Lys) rs772054419 0.00005
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=) rs772143528 0.00004
NM_000080.4(CHRNE):c.1335C>T (p.Ser445=) rs753202734 0.00004
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=) rs201030784 0.00004
NM_000080.4(CHRNE):c.1390G>A (p.Val464Met) rs771016534 0.00004
NM_000080.4(CHRNE):c.1407C>T (p.Gly469=) rs377178938 0.00004
NM_000080.4(CHRNE):c.15G>A (p.Pro5=) rs756933520 0.00004
NM_000080.4(CHRNE):c.598A>G (p.Thr200Ala) rs1336284577 0.00004
NM_000080.4(CHRNE):c.781G>T (p.Ala261Ser) rs762509943 0.00004
NM_000080.4(CHRNE):c.818G>C (p.Cys273Ser) rs745821689 0.00004
NM_005055.5(RAPSN):c.1126C>T (p.Arg376Trp) rs145507075 0.00004
NM_005055.5(RAPSN):c.1180A>C (p.Asn394His) rs762532220 0.00004
NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp) rs201725858 0.00004
NM_005055.5(RAPSN):c.661C>T (p.Arg221Cys) rs769989407 0.00004
NM_005055.5(RAPSN):c.667G>A (p.Gly223Ser) rs138863694 0.00004
NM_005055.5(RAPSN):c.814G>A (p.Ala272Thr) rs771749514 0.00004
NM_005055.5(RAPSN):c.889G>A (p.Val297Met) rs369570812 0.00004
NM_000080.4(CHRNE):c.1289T>G (p.Val430Gly) rs200343520 0.00003
NM_000080.4(CHRNE):c.189+5G>A rs906477326 0.00003
NM_000080.4(CHRNE):c.509C>G (p.Thr170Arg) rs375652301 0.00003
NM_000080.4(CHRNE):c.802+7A>C rs756213406 0.00003
NM_000080.4(CHRNE):c.971del (p.Ile324fs) rs879255562 0.00003
NM_005055.5(RAPSN):c.196G>A (p.Ala66Thr) rs145197671 0.00003
NM_005055.5(RAPSN):c.265C>G (p.Leu89Val) rs543224303 0.00003
NM_005055.5(RAPSN):c.717C>T (p.His239=) rs576729861 0.00003
NM_005055.5(RAPSN):c.725G>A (p.Arg242Gln) rs780963721 0.00003
NM_005055.5(RAPSN):c.808G>A (p.Asp270Asn) rs768011436 0.00003
NM_005055.5(RAPSN):c.822C>A (p.Ser274Arg) rs778371396 0.00003
NM_005055.5(RAPSN):c.863C>T (p.Ala288Val) rs760068830 0.00003
NM_000080.4(CHRNE):c.1033-9C>A rs1055824191 0.00002
NM_000080.4(CHRNE):c.1100C>T (p.Ser367Leu) rs753495337 0.00002
NM_000080.4(CHRNE):c.118C>T (p.Arg40Trp) rs754001856 0.00002
NM_000080.4(CHRNE):c.1211C>T (p.Thr404Ile) rs747853975 0.00002
NM_000080.4(CHRNE):c.16C>T (p.Leu6Phe) rs746521766 0.00002
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs) rs776927709 0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) rs372635387 0.00002
NM_000080.4(CHRNE):c.557G>A (p.Gly186Asp) rs1279921545 0.00002
NM_000080.4(CHRNE):c.569A>G (p.Asn190Ser) rs753756406 0.00002
NM_000080.4(CHRNE):c.705C>G (p.Ile235Met) rs748765369 0.00002
NM_000080.4(CHRNE):c.803-2A>G rs1320610655 0.00002
NM_000080.4(CHRNE):c.883C>T (p.Pro295Ser) rs61735425 0.00002
NM_000080.4(CHRNE):c.989A>G (p.Gln330Arg) rs747017964 0.00002
NM_005055.5(RAPSN):c.-210A>G rs786200905 0.00002
NM_005055.5(RAPSN):c.360G>T (p.Gln120His) rs780338213 0.00002
NM_005055.5(RAPSN):c.475G>A (p.Ala159Thr) rs199506866 0.00002
NM_000080.4(CHRNE):c.1003A>G (p.Thr335Ala) rs1216965153 0.00001
NM_000080.4(CHRNE):c.1077G>T (p.Pro359=) rs907495464 0.00001
NM_000080.4(CHRNE):c.1078C>T (p.Pro360Ser) rs998988224 0.00001
NM_000080.4(CHRNE):c.1093G>A (p.Ala365Thr) rs780327519 0.00001
NM_000080.4(CHRNE):c.1098C>T (p.Ala366=) rs778313885 0.00001
NM_000080.4(CHRNE):c.1220-1G>A rs373710822 0.00001
NM_000080.4(CHRNE):c.1220-4C>T rs201553105 0.00001
NM_000080.4(CHRNE):c.1255G>A (p.Glu419Lys) rs754975887 0.00001
NM_000080.4(CHRNE):c.1261C>T (p.Arg421Cys) rs369709668 0.00001
NM_000080.4(CHRNE):c.1323C>T (p.Gly441=) rs758517310 0.00001
NM_000080.4(CHRNE):c.1424T>A (p.Leu475His) rs764935677 0.00001
NM_000080.4(CHRNE):c.1453C>T (p.Leu485Phe) rs1085307690 0.00001
NM_000080.4(CHRNE):c.1471A>G (p.Ile491Val) rs753512613 0.00001
NM_000080.4(CHRNE):c.357G>A (p.Gln119=) rs747638974 0.00001
NM_000080.4(CHRNE):c.359T>C (p.Phe120Ser) rs771356927 0.00001
NM_000080.4(CHRNE):c.373G>A (p.Asp125Asn) rs1056080125 0.00001
NM_000080.4(CHRNE):c.46G>A (p.Gly16Ser) rs764552360 0.00001
NM_000080.4(CHRNE):c.529_551del (p.Glu177fs) rs758687208 0.00001
NM_000080.4(CHRNE):c.580A>T (p.Ile194Phe) rs1020146692 0.00001
NM_000080.4(CHRNE):c.646C>T (p.Arg216Cys) rs577641512 0.00001
NM_000080.4(CHRNE):c.691A>G (p.Ile231Val) rs1226552673 0.00001
NM_000080.4(CHRNE):c.745G>A (p.Val249Met) rs757421529 0.00001
NM_000080.4(CHRNE):c.795G>A (p.Pro265=) rs1567638559 0.00001
NM_000080.4(CHRNE):c.7A>G (p.Arg3Gly) rs201118080 0.00001
NM_000080.4(CHRNE):c.84T>G (p.Tyr28Ter) rs748103983 0.00001
NM_000080.4(CHRNE):c.945C>T (p.Ala315=) rs758560981 0.00001
NM_005055.5(RAPSN):c.1010G>A (p.Arg337His) rs768445220 0.00001
NM_005055.5(RAPSN):c.1028G>A (p.Arg343Gln) rs757902272 0.00001
NM_005055.5(RAPSN):c.1036C>T (p.Arg346Trp) rs529117281 0.00001
NM_005055.5(RAPSN):c.1076C>T (p.Thr359Met) rs768394140 0.00001
NM_005055.5(RAPSN):c.1081C>G (p.Leu361Val) rs1231669536 0.00001
NM_005055.5(RAPSN):c.1113C>T (p.Gly371=) rs150503333 0.00001
NM_005055.5(RAPSN):c.111G>A (p.Ser37=) rs146825957 0.00001
NM_005055.5(RAPSN):c.1181A>G (p.Asn394Ser) rs370123138 0.00001
NM_005055.5(RAPSN):c.1221G>A (p.Met407Ile) rs1272838959 0.00001
NM_005055.5(RAPSN):c.130C>T (p.Arg44Cys) rs772236739 0.00001
NM_005055.5(RAPSN):c.161C>T (p.Ser54Leu) rs750772292 0.00001
NM_005055.5(RAPSN):c.220C>T (p.Arg74Trp) rs778157857 0.00001
NM_005055.5(RAPSN):c.22C>A (p.Gln8Lys) rs11556408 0.00001
NM_005055.5(RAPSN):c.271C>T (p.Arg91Cys) rs767507908 0.00001
NM_005055.5(RAPSN):c.317G>A (p.Cys106Tyr) rs1341207988 0.00001
NM_005055.5(RAPSN):c.328C>T (p.Leu110Phe) rs1164228546 0.00001
NM_005055.5(RAPSN):c.33G>C (p.Glu11Asp) rs1047615316 0.00001
NM_005055.5(RAPSN):c.429G>A (p.Leu143=) rs762052702 0.00001
NM_005055.5(RAPSN):c.43C>A (p.Gln15Lys) rs1326936118 0.00001
NM_005055.5(RAPSN):c.451C>T (p.Arg151Cys) rs148600999 0.00001
NM_005055.5(RAPSN):c.493G>A (p.Val165Met) rs761584017 0.00001
NM_005055.5(RAPSN):c.531+1G>T rs1421354085 0.00001
NM_005055.5(RAPSN):c.59A>T (p.Asn20Ile) rs747627949 0.00001
NM_005055.5(RAPSN):c.613C>T (p.Arg205Trp) rs756738642 0.00001
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter) rs1595903667 0.00001
NM_005055.5(RAPSN):c.649C>T (p.Arg217Cys) rs766845970 0.00001
NM_005055.5(RAPSN):c.662G>A (p.Arg221His) rs1377574572 0.00001
NM_005055.5(RAPSN):c.682T>C (p.Cys228Arg) rs778884780 0.00001
NM_005055.5(RAPSN):c.769C>T (p.Arg257Trp) rs753956536 0.00001
NM_005055.5(RAPSN):c.82G>T (p.Val28Leu) rs199984356 0.00001
NM_005055.5(RAPSN):c.847C>G (p.Leu283Val) rs761730497 0.00001
NM_005055.5(RAPSN):c.912+8C>T rs375174267 0.00001
NM_005055.5(RAPSN):c.985C>T (p.His329Tyr) rs772147307 0.00001
NM_000080.4(CHRNE):c.1018C>T (p.Pro340Ser) rs1019584942
NM_000080.4(CHRNE):c.1019C>G (p.Pro340Arg) rs139922367
NM_000080.4(CHRNE):c.1021C>T (p.Arg341Trp) rs1597615227
NM_000080.4(CHRNE):c.1049T>C (p.Leu350Pro) rs1969864400
NM_000080.4(CHRNE):c.1055G>T (p.Arg352Leu) rs764744220
NM_000080.4(CHRNE):c.1070C>T (p.Pro357Leu) rs1026988403
NM_000080.4(CHRNE):c.1071GCC[4] (p.Pro360dup) rs752226476
NM_000080.4(CHRNE):c.1119G>A (p.Ser373=) rs372862723
NM_000080.4(CHRNE):c.1142C>T (p.Ala381Val) rs756786529
NM_000080.4(CHRNE):c.1144GAG[1] (p.Glu383del) rs961784740
NM_000080.4(CHRNE):c.1173C>A (p.Ser391Arg) rs146921234
NM_000080.4(CHRNE):c.1180G>T (p.Val394Leu) rs772486503
NM_000080.4(CHRNE):c.1218G>A (p.Thr406=) rs751373916
NM_000080.4(CHRNE):c.1220-1G>C rs373710822
NM_000080.4(CHRNE):c.1220-2A>G rs1309292778
NM_000080.4(CHRNE):c.1242C>A (p.Gly414=) rs370770111
NM_000080.4(CHRNE):c.1250_1268dup (p.Val424fs) rs781774131
NM_000080.4(CHRNE):c.130dup (p.Glu44fs) rs762368691
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000080.4(CHRNE):c.132G>A (p.Glu44=) rs2151098887
NM_000080.4(CHRNE):c.1345C>A (p.Arg449Ser) rs149083639
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) rs773526895
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=) rs570378547
NM_000080.4(CHRNE):c.1402G>A (p.Val468Met) rs139171143
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.202G>A (p.Glu68Lys) rs149766604
NM_000080.4(CHRNE):c.202G>C (p.Glu68Gln) rs149766604
NM_000080.4(CHRNE):c.21G>T (p.Gly7=) rs1166759787
NM_000080.4(CHRNE):c.235G>T (p.Asp79Tyr) rs1200020913
NM_000080.4(CHRNE):c.382G>A (p.Val128Met) rs958078989
NM_000080.4(CHRNE):c.384_389del (p.Leu129_Val130del) rs1555546980
NM_000080.4(CHRNE):c.410C>T (p.Thr137Met) rs146089157
NM_000080.4(CHRNE):c.442T>A (p.Cys148Ser) rs1597621396
NM_000080.4(CHRNE):c.47-8dup rs550750896
NM_000080.4(CHRNE):c.488C>G (p.Ser163Trp) rs121909516
NM_000080.4(CHRNE):c.501-10_504dup rs768552387
NM_000080.4(CHRNE):c.53G>C (p.Gly18Ala) rs4790235
NM_000080.4(CHRNE):c.614_620del (p.Trp205fs) rs753828284
NM_000080.4(CHRNE):c.619A>G (p.Ile207Val) rs1422386099
NM_000080.4(CHRNE):c.710G>A (p.Arg237His) rs201434993
NM_000080.4(CHRNE):c.802+9T>C rs199876621
NM_000080.4(CHRNE):c.808G>A (p.Gly270Ser) rs1447784617
NM_000080.4(CHRNE):c.858C>T (p.Phe286=) rs1597618773
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg) rs370019023
NM_000080.4(CHRNE):c.918G>T (p.Arg306Ser) rs1453842961
NM_000080.4(CHRNE):c.966C>T (p.Cys322=) rs56377005
NM_000080.4(CHRNE):c.992G>A (p.Arg331Gln) rs760022829
NM_005055.5(RAPSN):c.1009C>T (p.Arg337Cys) rs549232026
NM_005055.5(RAPSN):c.102G>A (p.Glu34=) rs2076432091
NM_005055.5(RAPSN):c.1059C>T (p.His353=) rs544722226
NM_005055.5(RAPSN):c.1083_1084dup (p.Tyr362fs) rs786205885
NM_005055.5(RAPSN):c.1127G>A (p.Arg376Gln) rs1241928450
NM_005055.5(RAPSN):c.1177_1178del (p.Asn393fs) rs1555142142
NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg) rs768882267
NM_005055.5(RAPSN):c.1208G>A (p.Arg403His) rs1425380499
NM_005055.5(RAPSN):c.248T>A (p.Leu83Gln) rs2076424527
NM_005055.5(RAPSN):c.279C>T (p.Asn93=) rs901210204
NM_005055.5(RAPSN):c.291C>A (p.Cys97Ter) rs749287203
NM_005055.5(RAPSN):c.325T>G (p.Cys109Gly) rs2076423375
NM_005055.5(RAPSN):c.39G>T (p.Gly13=) rs770689515
NM_005055.5(RAPSN):c.468TGA[1] (p.Asp158del) rs1595902555
NM_005055.5(RAPSN):c.568G>T (p.Ala190Ser) rs779881502
NM_005055.5(RAPSN):c.581A>G (p.Asn194Ser) rs2076375665
NM_005055.5(RAPSN):c.605T>C (p.Leu202Pro) rs1423328134
NM_005055.5(RAPSN):c.691-11del rs34729771
NM_005055.5(RAPSN):c.775C>G (p.Arg259Gly) rs150207592
NM_005055.5(RAPSN):c.798C>T (p.Phe266=) rs1487536762
NM_005055.5(RAPSN):c.817A>T (p.Met273Leu) rs1397711588
NM_005055.5(RAPSN):c.838G>A (p.Gly280Arg) rs1262674788
NM_005055.5(RAPSN):c.912+9G>A rs751790521
NM_005055.5(RAPSN):c.919G>C (p.Asp307His) rs1565683625
NM_005055.5(RAPSN):c.975G>A (p.Gln325=) rs528431446
NM_005055.5(RAPSN):c.996C>G (p.Ser332Arg) rs1013180221
NM_005055.5(RAPSN):c.997G>C (p.Glu333Gln) rs201947904
NM_005055.5(RAPSN):c.997G>T (p.Glu333Ter) rs201947904

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