ClinVar Miner

List of variants reported as likely benign for congenital myasthenic syndrome 11 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 328
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HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn) rs140996453 0.00138
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_005055.5(RAPSN):c.492C>T (p.Arg164=) rs146237774 0.00046
NM_005055.5(RAPSN):c.1166+16G>A rs377580268 0.00045
NM_005055.5(RAPSN):c.816C>T (p.Ala272=) rs779303374 0.00028
NM_005055.5(RAPSN):c.903G>A (p.Ala301=) rs56040810 0.00028
NM_005055.5(RAPSN):c.776G>A (p.Arg259His) rs766051613 0.00024
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=) rs757215612 0.00019
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=) rs149683345 0.00016
NM_005055.5(RAPSN):c.225G>A (p.Glu75=) rs147923114 0.00014
NM_005055.5(RAPSN):c.1098C>T (p.Cys366=) rs139525851 0.00010
NM_005055.5(RAPSN):c.640G>A (p.Val214Met) rs201124957 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.1166+13G>C rs745720985 0.00009
NM_005055.5(RAPSN):c.790-5T>C rs369823690 0.00008
NM_005055.5(RAPSN):c.1189C>T (p.Arg397Trp) rs201796294 0.00007
NM_005055.5(RAPSN):c.30C>T (p.Ile10=) rs768838402 0.00006
NM_005055.5(RAPSN):c.756C>T (p.Phe252=) rs758794718 0.00006
NM_005055.5(RAPSN):c.948C>T (p.Ala316=) rs374676714 0.00006
NM_005055.5(RAPSN):c.216G>A (p.Thr72=) rs141877523 0.00004
NM_005055.5(RAPSN):c.690+19G>A rs183974908 0.00004
NM_005055.5(RAPSN):c.708G>A (p.Ala236=) rs770777539 0.00004
NM_005055.5(RAPSN):c.1077G>A (p.Thr359=) rs565321918 0.00003
NM_005055.5(RAPSN):c.246C>T (p.Leu82=) rs780420252 0.00003
NM_005055.5(RAPSN):c.567G>A (p.Ala189=) rs886043559 0.00003
NM_005055.5(RAPSN):c.705C>T (p.Ile235=) rs562539081 0.00003
NM_005055.5(RAPSN):c.717C>T (p.His239=) rs576729861 0.00003
NM_005055.5(RAPSN):c.729A>G (p.Pro243=) rs1297914613 0.00003
NM_005055.5(RAPSN):c.966+16G>A rs759757902 0.00003
NM_005055.5(RAPSN):c.1002C>T (p.Ser334=) rs376829572 0.00002
NM_005055.5(RAPSN):c.1065C>T (p.Cys355=) rs763094966 0.00002
NM_005055.5(RAPSN):c.1167-17G>A rs770347768 0.00002
NM_005055.5(RAPSN):c.1194C>T (p.Ser398=) rs1013183854 0.00002
NM_005055.5(RAPSN):c.726G>A (p.Arg242=) rs754654883 0.00002
NM_005055.5(RAPSN):c.912+20A>G rs763929869 0.00002
NM_005055.5(RAPSN):c.1038G>A (p.Arg346=) rs764482974 0.00001
NM_005055.5(RAPSN):c.1044C>T (p.His348=) rs1014137280 0.00001
NM_005055.5(RAPSN):c.1089C>T (p.Cys363=) rs150934532 0.00001
NM_005055.5(RAPSN):c.1119G>A (p.Lys373=) rs1048200516 0.00001
NM_005055.5(RAPSN):c.111G>A (p.Ser37=) rs146825957 0.00001
NM_005055.5(RAPSN):c.1155C>T (p.Ile385=) rs1368702539 0.00001
NM_005055.5(RAPSN):c.1166+18G>A rs536788411 0.00001
NM_005055.5(RAPSN):c.1176G>A (p.Gln392=) rs1353799875 0.00001
NM_005055.5(RAPSN):c.1182C>T (p.Asn394=) rs530896580 0.00001
NM_005055.5(RAPSN):c.1212C>T (p.Arg404=) rs2076326463 0.00001
NM_005055.5(RAPSN):c.132C>T (p.Arg44=) rs772917848 0.00001
NM_005055.5(RAPSN):c.150C>A (p.Val50=) rs768214983 0.00001
NM_005055.5(RAPSN):c.192+12C>T rs774654232 0.00001
NM_005055.5(RAPSN):c.192+7G>T rs767745050 0.00001
NM_005055.5(RAPSN):c.195C>T (p.Phe65=) rs772563068 0.00001
NM_005055.5(RAPSN):c.210C>T (p.Ile70=) rs773975835 0.00001
NM_005055.5(RAPSN):c.219C>G (p.Ala73=) rs2076424955 0.00001
NM_005055.5(RAPSN):c.237C>T (p.Ala79=) rs888989685 0.00001
NM_005055.5(RAPSN):c.321G>A (p.Lys107=) rs781529364 0.00001
NM_005055.5(RAPSN):c.345C>A (p.Thr115=) rs1353205717 0.00001
NM_005055.5(RAPSN):c.408C>T (p.Leu136=) rs1466576877 0.00001
NM_005055.5(RAPSN):c.429G>A (p.Leu143=) rs762052702 0.00001
NM_005055.5(RAPSN):c.438C>T (p.Phe146=) rs1459059463 0.00001
NM_005055.5(RAPSN):c.483C>T (p.Leu161=) rs754775068 0.00001
NM_005055.5(RAPSN):c.528C>G (p.Val176=) rs761149747 0.00001
NM_005055.5(RAPSN):c.532-12T>C rs768129120 0.00001
NM_005055.5(RAPSN):c.558C>T (p.Pro186=) rs773462623 0.00001
NM_005055.5(RAPSN):c.576T>C (p.Leu192=) rs745749798 0.00001
NM_005055.5(RAPSN):c.645C>T (p.Ala215=) rs1338665465 0.00001
NM_005055.5(RAPSN):c.691-5C>T rs1291023159 0.00001
NM_005055.5(RAPSN):c.723C>T (p.Asp241=) rs769383562 0.00001
NM_005055.5(RAPSN):c.738G>A (p.Ala246=) rs889862832 0.00001
NM_005055.5(RAPSN):c.789+17G>A rs369690955 0.00001
NM_005055.5(RAPSN):c.813C>T (p.Ser271=) rs760253392 0.00001
NM_005055.5(RAPSN):c.90A>G (p.Thr30=) rs753896492 0.00001
NM_005055.5(RAPSN):c.912+11G>T rs780444573 0.00001
NM_005055.5(RAPSN):c.912+8C>T rs375174267 0.00001
NM_005055.5(RAPSN):c.913-18C>T rs570429072 0.00001
NM_005055.5(RAPSN):c.927C>T (p.Ile309=) rs144813373 0.00001
NM_005055.5(RAPSN):c.957G>C (p.Val319=) rs794727796 0.00001
NM_005055.5(RAPSN):c.967-10C>T rs754320492 0.00001
NM_005055.5(RAPSN):c.987C>T (p.His329=) rs1340342787 0.00001
NM_005055.5(RAPSN):c.1017A>G (p.Lys339=)
NM_005055.5(RAPSN):c.1020G>A (p.Gly340=)
NM_005055.5(RAPSN):c.102G>A (p.Glu34=) rs2076432091
NM_005055.5(RAPSN):c.1033C>T (p.Leu345=) rs778622975
NM_005055.5(RAPSN):c.1047T>C (p.Val349=)
NM_005055.5(RAPSN):c.1050G>A (p.Val350=)
NM_005055.5(RAPSN):c.1050G>C (p.Val350=)
NM_005055.5(RAPSN):c.1059C>T (p.His353=) rs544722226
NM_005055.5(RAPSN):c.105G>A (p.Lys35=) rs2153311746
NM_005055.5(RAPSN):c.1071G>A (p.Glu357=)
NM_005055.5(RAPSN):c.1074G>A (p.Glu358=)
NM_005055.5(RAPSN):c.1077G>C (p.Thr359=)
NM_005055.5(RAPSN):c.1077G>T (p.Thr359=) rs565321918
NM_005055.5(RAPSN):c.1086C>T (p.Tyr362=) rs763018407
NM_005055.5(RAPSN):c.108C>T (p.Ser36=)
NM_005055.5(RAPSN):c.1116G>A (p.Glu372=) rs2153306751
NM_005055.5(RAPSN):c.1128G>A (p.Arg376=) rs1194287140
NM_005055.5(RAPSN):c.1131G>A (p.Leu377=) rs2076335581
NM_005055.5(RAPSN):c.1137C>T (p.Ala379=)
NM_005055.5(RAPSN):c.1138C>T (p.Leu380=)
NM_005055.5(RAPSN):c.1140A>C (p.Leu380=)
NM_005055.5(RAPSN):c.1149C>T (p.Ser383=) rs765481657
NM_005055.5(RAPSN):c.1164C>T (p.Leu388=)
NM_005055.5(RAPSN):c.1166+10C>G
NM_005055.5(RAPSN):c.1166+10C>T
NM_005055.5(RAPSN):c.1166+13G>A
NM_005055.5(RAPSN):c.1166+13G>T
NM_005055.5(RAPSN):c.1166+14G>A
NM_005055.5(RAPSN):c.1166+14G>C
NM_005055.5(RAPSN):c.1166+15G>A rs556595562
NM_005055.5(RAPSN):c.1166+15G>C rs556595562
NM_005055.5(RAPSN):c.1166+15G>T
NM_005055.5(RAPSN):c.1166+16G>T
NM_005055.5(RAPSN):c.1166+17G>A
NM_005055.5(RAPSN):c.1166+18G>C
NM_005055.5(RAPSN):c.1166+19G>A
NM_005055.5(RAPSN):c.1166+7G>A
NM_005055.5(RAPSN):c.1166+7G>T rs1395269562
NM_005055.5(RAPSN):c.1167-12T>C
NM_005055.5(RAPSN):c.1167-20A>G
NM_005055.5(RAPSN):c.1167-8C>T
NM_005055.5(RAPSN):c.1167-9C>T
NM_005055.5(RAPSN):c.1170C>T (p.Cys390=) rs2153306281
NM_005055.5(RAPSN):c.1171C>T (p.Leu391=)
NM_005055.5(RAPSN):c.1185G>A (p.Gly395=)
NM_005055.5(RAPSN):c.1189C>A (p.Arg397=)
NM_005055.5(RAPSN):c.1218C>T (p.Ser406=)
NM_005055.5(RAPSN):c.1236A>G (p.Val412=)
NM_005055.5(RAPSN):c.123G>A (p.Gly41=)
NM_005055.5(RAPSN):c.156C>A (p.Ala52=)
NM_005055.5(RAPSN):c.156C>T (p.Ala52=)
NM_005055.5(RAPSN):c.171C>T (p.Gly57=)
NM_005055.5(RAPSN):c.174C>A (p.Arg58=) rs2153311690
NM_005055.5(RAPSN):c.180G>A (p.Lys60=)
NM_005055.5(RAPSN):c.183G>A (p.Glu61=)
NM_005055.5(RAPSN):c.189G>A (p.Leu63=)
NM_005055.5(RAPSN):c.192+10C>A rs1202888760
NM_005055.5(RAPSN):c.192+10C>T rs1202888760
NM_005055.5(RAPSN):c.192+11C>T
NM_005055.5(RAPSN):c.192+12del
NM_005055.5(RAPSN):c.192+13G>A
NM_005055.5(RAPSN):c.192+17T>C
NM_005055.5(RAPSN):c.192+7G>A
NM_005055.5(RAPSN):c.192+8T>C rs759724477
NM_005055.5(RAPSN):c.192+9dup rs2153311675
NM_005055.5(RAPSN):c.193-10C>T rs2153311437
NM_005055.5(RAPSN):c.193-11G>A
NM_005055.5(RAPSN):c.193-12C>T
NM_005055.5(RAPSN):c.193-16C>A
NM_005055.5(RAPSN):c.193-16C>T
NM_005055.5(RAPSN):c.193-17A>C
NM_005055.5(RAPSN):c.193-18C>T
NM_005055.5(RAPSN):c.193-4G>A
NM_005055.5(RAPSN):c.193-8G>T
NM_005055.5(RAPSN):c.198T>G (p.Ala66=) rs1131389
NM_005055.5(RAPSN):c.210C>A (p.Ile70=)
NM_005055.5(RAPSN):c.226C>T (p.Leu76=)
NM_005055.5(RAPSN):c.228G>A (p.Leu76=) rs2153311384
NM_005055.5(RAPSN):c.246C>G (p.Leu82=) rs780420252
NM_005055.5(RAPSN):c.249G>A (p.Leu83=)
NM_005055.5(RAPSN):c.258C>T (p.Tyr86=)
NM_005055.5(RAPSN):c.259C>T (p.Leu87=)
NM_005055.5(RAPSN):c.265C>T (p.Leu89=)
NM_005055.5(RAPSN):c.273C>G (p.Arg91=)
NM_005055.5(RAPSN):c.279C>T (p.Asn93=) rs901210204
NM_005055.5(RAPSN):c.27G>A (p.Gln9=) rs1452323802
NM_005055.5(RAPSN):c.282G>A (p.Glu94=) rs2153311324
NM_005055.5(RAPSN):c.286C>T (p.Leu96=)
NM_005055.5(RAPSN):c.294G>A (p.Glu98=) rs1331228474
NM_005055.5(RAPSN):c.30C>A (p.Ile10=) rs768838402
NM_005055.5(RAPSN):c.327C>T (p.Cys109=) rs769245608
NM_005055.5(RAPSN):c.333G>T (p.Gly111=) rs2153311277
NM_005055.5(RAPSN):c.336G>A (p.Leu112=)
NM_005055.5(RAPSN):c.336G>T (p.Leu112=) rs747080013
NM_005055.5(RAPSN):c.339T>C (p.Pro113=)
NM_005055.5(RAPSN):c.345C>T (p.Thr115=)
NM_005055.5(RAPSN):c.354T>G (p.Gly118=)
NM_005055.5(RAPSN):c.357C>T (p.Ala119=) rs1595902752
NM_005055.5(RAPSN):c.360G>A (p.Gln120=)
NM_005055.5(RAPSN):c.363C>G (p.Leu121=) rs190548363
NM_005055.5(RAPSN):c.369C>T (p.Gly123=)
NM_005055.5(RAPSN):c.375C>T (p.Val125=)
NM_005055.5(RAPSN):c.379C>T (p.Leu127=)
NM_005055.5(RAPSN):c.39G>T (p.Gly13=) rs770689515
NM_005055.5(RAPSN):c.411C>T (p.Ser137=)
NM_005055.5(RAPSN):c.423G>A (p.Lys141=) rs2153311227
NM_005055.5(RAPSN):c.441G>A (p.Glu147=)
NM_005055.5(RAPSN):c.447C>T (p.Ala149=) rs2153311191
NM_005055.5(RAPSN):c.450G>A (p.Leu150=)
NM_005055.5(RAPSN):c.456_457delinsCT (p.Ala153Ser) rs1595902592
NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser) rs142635726
NM_005055.5(RAPSN):c.459C>T (p.Ala153=) rs780030892
NM_005055.5(RAPSN):c.471T>C (p.Asp157=)
NM_005055.5(RAPSN):c.489C>T (p.Cys163=) rs1202436612
NM_005055.5(RAPSN):c.48G>A (p.Leu16=) rs2076432806
NM_005055.5(RAPSN):c.492C>A (p.Arg164=) rs146237774
NM_005055.5(RAPSN):c.495G>A (p.Val165=)
NM_005055.5(RAPSN):c.495G>C (p.Val165=)
NM_005055.5(RAPSN):c.504C>T (p.Ser168=) rs2153311137
NM_005055.5(RAPSN):c.510C>G (p.Gly170=) rs1335659789
NM_005055.5(RAPSN):c.510C>T (p.Gly170=)
NM_005055.5(RAPSN):c.522C>T (p.Ala174=)
NM_005055.5(RAPSN):c.531+15C>G
NM_005055.5(RAPSN):c.531+17G>A
NM_005055.5(RAPSN):c.531+17G>C
NM_005055.5(RAPSN):c.531+18G>A
NM_005055.5(RAPSN):c.531+19G>C
NM_005055.5(RAPSN):c.531+20G>A
NM_005055.5(RAPSN):c.531+7C>G
NM_005055.5(RAPSN):c.531+8T>G rs2153311112
NM_005055.5(RAPSN):c.532-17T>C
NM_005055.5(RAPSN):c.532-19C>T
NM_005055.5(RAPSN):c.532-4G>A rs553983766
NM_005055.5(RAPSN):c.532-5T>C rs1296891027
NM_005055.5(RAPSN):c.532-8C>T
NM_005055.5(RAPSN):c.537C>T (p.Tyr179=) rs1015604630
NM_005055.5(RAPSN):c.549G>C (p.Leu183=) rs1595899529
NM_005055.5(RAPSN):c.54G>A (p.Gln18=) rs2153311774
NM_005055.5(RAPSN):c.558C>G (p.Pro186=)
NM_005055.5(RAPSN):c.570A>G (p.Ala190=) rs1437018541
NM_005055.5(RAPSN):c.570A>T (p.Ala190=)
NM_005055.5(RAPSN):c.573G>A (p.Glu191=)
NM_005055.5(RAPSN):c.609G>A (p.Lys203=) rs2153309106
NM_005055.5(RAPSN):c.612C>T (p.Tyr204=)
NM_005055.5(RAPSN):c.639C>T (p.Ala213=)
NM_005055.5(RAPSN):c.648T>C (p.Tyr216=)
NM_005055.5(RAPSN):c.664C>T (p.Leu222=)
NM_005055.5(RAPSN):c.669C>T (p.Gly223=) rs1168766907
NM_005055.5(RAPSN):c.66A>C (p.Thr22=)
NM_005055.5(RAPSN):c.66A>G (p.Thr22=)
NM_005055.5(RAPSN):c.675C>T (p.Ala225=)
NM_005055.5(RAPSN):c.690+10C>G rs78293924
NM_005055.5(RAPSN):c.690+11G>A
NM_005055.5(RAPSN):c.690+14G>A
NM_005055.5(RAPSN):c.690+18G>A
NM_005055.5(RAPSN):c.691-10del
NM_005055.5(RAPSN):c.691-11C>T
NM_005055.5(RAPSN):c.691-16C>G
NM_005055.5(RAPSN):c.691-20G>A
NM_005055.5(RAPSN):c.691-4G>A
NM_005055.5(RAPSN):c.691-4G>T rs886048388
NM_005055.5(RAPSN):c.691-7C>A rs2153308712
NM_005055.5(RAPSN):c.691-7del
NM_005055.5(RAPSN):c.709C>T (p.Leu237=)
NM_005055.5(RAPSN):c.714G>A (p.Gln238=) rs2153308678
NM_005055.5(RAPSN):c.735G>A (p.Gln245=)
NM_005055.5(RAPSN):c.738G>T (p.Ala246=) rs889862832
NM_005055.5(RAPSN):c.744C>T (p.Cys248=) rs780224551
NM_005055.5(RAPSN):c.745C>T (p.Leu249=)
NM_005055.5(RAPSN):c.747G>C (p.Leu249=) rs1398686820
NM_005055.5(RAPSN):c.750C>T (p.Leu250=) rs2153308626
NM_005055.5(RAPSN):c.75A>G (p.Ala25=)
NM_005055.5(RAPSN):c.765C>A (p.Ile255=) rs1432435738
NM_005055.5(RAPSN):c.768C>T (p.His256=) rs757302008
NM_005055.5(RAPSN):c.76T>C (p.Leu26=) rs202091676
NM_005055.5(RAPSN):c.774C>T (p.Ser258=) rs2153308610
NM_005055.5(RAPSN):c.783C>T (p.Asp261=) rs2076367030
NM_005055.5(RAPSN):c.784C>T (p.Leu262=)
NM_005055.5(RAPSN):c.789+11C>G
NM_005055.5(RAPSN):c.789+11C>T
NM_005055.5(RAPSN):c.789+12G>A
NM_005055.5(RAPSN):c.789+17G>T
NM_005055.5(RAPSN):c.789+8C>G
NM_005055.5(RAPSN):c.789_789+15dup rs780882080
NM_005055.5(RAPSN):c.78G>A (p.Leu26=) rs750811979
NM_005055.5(RAPSN):c.790-12C>G
NM_005055.5(RAPSN):c.790-13C>T
NM_005055.5(RAPSN):c.790-15C>A
NM_005055.5(RAPSN):c.790-15C>G rs752816353
NM_005055.5(RAPSN):c.790-15C>T
NM_005055.5(RAPSN):c.790-17C>G
NM_005055.5(RAPSN):c.790-17C>T
NM_005055.5(RAPSN):c.790-19C>A
NM_005055.5(RAPSN):c.790-6C>T rs2076365864
NM_005055.5(RAPSN):c.790-9G>C
NM_005055.5(RAPSN):c.798C>T (p.Phe266=) rs1487536762
NM_005055.5(RAPSN):c.807C>T (p.Tyr269=) rs104894301
NM_005055.5(RAPSN):c.822C>T (p.Ser274=)
NM_005055.5(RAPSN):c.825C>T (p.Ile275=)
NM_005055.5(RAPSN):c.831C>A (p.Thr277=) rs148078235
NM_005055.5(RAPSN):c.834G>A (p.Glu278=)
NM_005055.5(RAPSN):c.837C>T (p.Ile279=) rs755310896
NM_005055.5(RAPSN):c.846C>T (p.Arg282=) rs1595898465
NM_005055.5(RAPSN):c.847C>T (p.Leu283=) rs761730497
NM_005055.5(RAPSN):c.864G>T (p.Ala288=)
NM_005055.5(RAPSN):c.865C>T (p.Leu289=) rs2153308454
NM_005055.5(RAPSN):c.867G>A (p.Leu289=)
NM_005055.5(RAPSN):c.868C>T (p.Leu290=)
NM_005055.5(RAPSN):c.894C>T (p.Ala298=)
NM_005055.5(RAPSN):c.897G>A (p.Arg299=)
NM_005055.5(RAPSN):c.903G>T (p.Ala301=)
NM_005055.5(RAPSN):c.912+11G>A
NM_005055.5(RAPSN):c.912+15T>C
NM_005055.5(RAPSN):c.912+18C>T
NM_005055.5(RAPSN):c.912+9G>A rs751790521
NM_005055.5(RAPSN):c.912+9G>C
NM_005055.5(RAPSN):c.912+9G>T rs751790521
NM_005055.5(RAPSN):c.913-4C>T
NM_005055.5(RAPSN):c.913-7del
NM_005055.5(RAPSN):c.913-8C>A rs2153308235
NM_005055.5(RAPSN):c.915T>C (p.Ala305=)
NM_005055.5(RAPSN):c.916C>T (p.Leu306=) rs1262478144
NM_005055.5(RAPSN):c.924C>T (p.Ala308=)
NM_005055.5(RAPSN):c.948C>A (p.Ala316=) rs374676714
NM_005055.5(RAPSN):c.966+14C>G
NM_005055.5(RAPSN):c.966+19T>C
NM_005055.5(RAPSN):c.966+7C>G rs1595898047
NM_005055.5(RAPSN):c.966+7C>T
NM_005055.5(RAPSN):c.967-19C>G
NM_005055.5(RAPSN):c.967-20T>C
NM_005055.5(RAPSN):c.967-4C>G
NM_005055.5(RAPSN):c.967-5C>A
NM_005055.5(RAPSN):c.967-5C>T rs374686678
NM_005055.5(RAPSN):c.967-6C>A
NM_005055.5(RAPSN):c.967-7G>A
NM_005055.5(RAPSN):c.967-7G>C rs1374385127
NM_005055.5(RAPSN):c.967-7G>T rs1374385127
NM_005055.5(RAPSN):c.967-9G>C
NM_005055.5(RAPSN):c.96G>T (p.Val32=) rs2076432156
NM_005055.5(RAPSN):c.972C>T (p.Ser324=) rs2076338821
NM_005055.5(RAPSN):c.975G>A (p.Gln325=) rs528431446
NM_005055.5(RAPSN):c.984G>A (p.Leu328=)
NM_005055.5(RAPSN):c.984G>T (p.Leu328=) rs1469910398
NM_005055.5(RAPSN):c.991C>T (p.Leu331=) rs1595896703
NM_005055.5(RAPSN):c.993G>T (p.Leu331=) rs867698000
NM_005055.5(RAPSN):c.996C>T (p.Ser332=)
NM_005055.5(RAPSN):c.999G>A (p.Glu333=)
NM_005055.5(RAPSN):c.99G>A (p.Leu33=) rs2153311752

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