ClinVar Miner

List of variants reported as pathogenic for parathyroid gland disorder

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 832
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser) rs142287570 0.00050
NM_004064.5(CDKN1B):c.-80C>T rs551236750 0.00021
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_000383.4(AIRE):c.1095+2T>C rs760280615 0.00009
NM_000383.4(AIRE):c.798+1G>A rs138489664 0.00006
NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr) rs529924080 0.00006
NM_000101.4(CYBA):c.371C>T (p.Ala124Val) rs179363894 0.00003
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689 0.00003
NM_004752.4(GCM2):c.187G>A (p.Gly63Ser) rs104893960 0.00003
NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln) rs1281361203 0.00003
NM_018646.6(TRPV6):c.978_979del (p.Gly327_Asp328insTer) rs1342435095 0.00003
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889 0.00002
NM_000383.4(AIRE):c.232T>C (p.Trp78Arg) rs179363880 0.00002
NM_000383.4(AIRE):c.274C>T (p.Arg92Trp) rs140630532 0.00002
NM_000383.4(AIRE):c.607C>T (p.Arg203Ter) rs755490967 0.00002
NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu) rs759393722 0.00002
NM_000383.4(AIRE):c.1096-1G>A rs780906602 0.00001
NM_000383.4(AIRE):c.1163_1164insA (p.Met388fs) rs386833672 0.00001
NM_000383.4(AIRE):c.1295_1296insA (p.Arg433fs) rs763695515 0.00001
NM_000383.4(AIRE):c.1566+2T>A rs1057516985 0.00001
NM_000383.4(AIRE):c.1A>G (p.Met1Val) rs121434258 0.00001
NM_000383.4(AIRE):c.1A>T (p.Met1Leu) rs121434258 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000383.4(AIRE):c.463+2T>C rs786204478 0.00001
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser) rs193922418 0.00001
NM_000383.4(AIRE):c.62C>T (p.Ala21Val) rs179363886 0.00001
NM_000383.4(AIRE):c.789del (p.Ala264fs) rs387906295 0.00001
NM_000383.4(AIRE):c.83T>C (p.Leu28Pro) rs179363878 0.00001
NM_000383.4(AIRE):c.977C>T (p.Pro326Leu) rs179363885 0.00001
NM_000388.4(CASR):c.1525G>A (p.Gly509Arg) rs193922423 0.00001
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter) rs886041637 0.00001
NM_000388.4(CASR):c.166G>T (p.Glu56Ter) rs1358793834 0.00001
NM_000388.4(CASR):c.2038C>T (p.Arg680Cys) rs767363250 0.00001
NM_000388.4(CASR):c.2039G>A (p.Arg680His) rs773146939 0.00001
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432 0.00001
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu) rs1060502856 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter) rs1060499974 0.00001
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810 0.00001
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter) rs104894267 0.00001
NM_001370259.2(MEN1):c.491C>A (p.Ala164Asp) rs1565648547 0.00001
NM_024529.5(CDC73):c.1072C>T (p.Arg358Ter) rs771907995 0.00001
NM_024529.5(CDC73):c.226C>T (p.Arg76Ter) rs886041158 0.00001
CDC73, 41-BP DUP/INS
GNAS, 4.7-KB DEL
GNAS, GLN170ALA
GNAS, IVS3AS, A-G, -12
GRCh37/hg19 20q13.32(chr20:57244540-57246216)
NC_000001.10:g.(?_193091331)_(193121594_?)del
NC_000001.10:g.(?_193091331)_(193172992_?)del
NC_000001.10:g.(?_193094232)_(193094357_?)del
NC_000001.10:g.(?_193094317)_(193111354_?)del
NC_000001.10:g.(?_193099298)_(193099379_?)del
NC_000001.10:g.(?_193104511)_(193104729_?)del
NC_000001.10:g.(?_193172915)_(193172992_?)del
NC_000001.10:g.(?_193181185)_(193181617_?)del
NC_000001.10:g.(?_193181185)_(193219842_?)del
NC_000001.10:g.(?_193202113)_(193205496_?)del
NC_000001.11:g.(?_193122191)_(193122341_?)del
NC_000001.11:g.(?_193122191)_(193125227_?)del
NC_000001.11:g.(?_193122191)_(193150392_?)del
NC_000001.11:g.(?_193122191)_(193152454_?)del
NC_000001.11:g.(?_193122191)_(193250722_?)del
NC_000001.11:g.(?_193122201)_(193125227_?)del
NC_000001.11:g.(?_193122201)_(193250712_?)del
NC_000001.11:g.(?_193125102)_(193130253_?)del
NC_000001.11:g.(?_193130174)_(193130243_?)del
NC_000001.11:g.(?_193135381)_(193138183_?)del
NC_000001.11:g.(?_193236246)_(193236366_?)del
NC_000003.11:g.(?_121973037)_(122004038_?)del
NC_000003.11:g.(?_121980355)_(121981279_?)del
NC_000003.11:g.(?_121994639)_(122060414_?)del
NC_000011.10:g.(?_64803514)_(64804816_?)del
NC_000011.10:g.(?_64803514)_(64810132_?)del
NC_000011.10:g.(?_64804324)_(64810716_?)del
NC_000011.10:g.(?_64804334)_(64810716_?)del
NC_000011.10:g.(?_64809655)_(64810716_?)del
NC_000011.10:g.(?_64809659)_(64810115_?)del
NC_000011.10:g.64804807_64804818del rs760199250
NC_000011.10:g.64806369del rs1941733228
NC_000011.9:g.(?_63731700)_(64572142_?)del
NC_000011.9:g.(?_64550219)_(64573119_?)del
NC_000011.9:g.(?_64567607)_(64572007_?)del
NC_000011.9:g.(?_64570260)_(64572077_?)del
NC_000011.9:g.(?_64571796)_(64572298_?)del
NC_000011.9:g.(?_64571806)_(64575581_?)del
NC_000011.9:g.(?_64572175)_(64575826_?)del
NC_000011.9:g.(?_64572622)_(64586228_?)del
NC_000011.9:g.(?_64573097)_(64575581_?)del
NC_000011.9:g.(?_64573385)_(64575394_?)del
NC_000011.9:g.(?_64574479)_(64584006_?)del
NC_000011.9:g.(?_64575120)_(64576450_?)del
NC_000011.9:g.(?_64575343)_(64578188_?)del
NC_000011.9:g.(?_64577559)_(64578852_?)del
NC_000021.8:g.(?_45705869)_(45711113_?)del
NC_000021.8:g.(?_45705870)_(45707494_?)del
NC_000021.8:g.(?_45705870)_(45711113_?)del
NC_000021.8:g.(?_45705880)_(45707026_?)del
NC_000021.8:g.(?_45705880)_(45711103_?)del
NC_000021.8:g.(?_45709640)_(45714378_?)del
NC_000021.8:g.(?_45716246)_(45717610_?)del
NC_000021.9:g.(?_44285987)_(44297747_?)del
NC_000021.9:g.44288345_44288346del
NG_008970.1:g.3172_(10967_10971)del
NG_016194.2:g.[6012_6117gom;19440_19569lom]
NM_000315.4(PTH):c.247C>T (p.Arg83Ter) rs6256
NM_000315.4(PTH):c.52T>C (p.Cys18Arg) rs104894271
NM_000315.4(PTH):c.67T>C (p.Ser23Pro) rs104894272
NM_000315.4(PTH):c.86+1G>C rs2134093224
NM_000383.3:c.995+(3_5)delGAGinsTAT
NM_000383.4(AIRE):c.-17_27del (p.Met1fs) rs2040477031
NM_000383.4(AIRE):c.1045C>T (p.Gln349Ter)
NM_000383.4(AIRE):c.1060G>T (p.Glu354Ter)
NM_000383.4(AIRE):c.1066del (p.Arg356fs)
NM_000383.4(AIRE):c.1066dup (p.Arg356fs) rs1555872879
NM_000383.4(AIRE):c.1072C>T (p.Gln358Ter)
NM_000383.4(AIRE):c.107del (p.Asp36fs)
NM_000383.4(AIRE):c.1084del (p.Val362fs) rs1057517254
NM_000383.4(AIRE):c.1095+1G>C
NM_000383.4(AIRE):c.1103dup (p.Leu370fs) rs387906293
NM_000383.4(AIRE):c.1143_1144del (p.Glu383fs) rs746933095
NM_000383.4(AIRE):c.117del (p.Glu40fs) rs1248788128
NM_000383.4(AIRE):c.1182C>A (p.Tyr394Ter) rs1482020075
NM_000383.4(AIRE):c.1192_1196dup (p.Pro400fs) rs2146383463
NM_000383.4(AIRE):c.1193del (p.Pro398fs) rs1555872988
NM_000383.4(AIRE):c.1214del (p.Pro405fs) rs2040560523
NM_000383.4(AIRE):c.1233del (p.Ser412fs) rs2146383573
NM_000383.4(AIRE):c.1235del (p.Ser412fs)
NM_000383.4(AIRE):c.1249dup (p.Leu417fs) rs786204567
NM_000383.4(AIRE):c.1250_1251insTCTCCTCGGCCCTGCACCCCCT (p.Cys419fs) rs2146383561
NM_000383.4(AIRE):c.1259_1260del (p.Val420fs) rs759281545
NM_000383.4(AIRE):c.1265del (p.Pro422fs) rs764878471
NM_000383.4(AIRE):c.1271del (p.Gly424fs)
NM_000383.4(AIRE):c.1273C>T (p.Gln425Ter) rs1601969308
NM_000383.4(AIRE):c.1302C>A (p.Cys434Ter)
NM_000383.4(AIRE):c.1316_1334del (p.Asp439fs)
NM_000383.4(AIRE):c.132+1_132+3delinsCT rs886041293
NM_000383.4(AIRE):c.133-126_539-180del
NM_000383.4(AIRE):c.1364G>A (p.Trp455Ter)
NM_000383.4(AIRE):c.1412del (p.Arg471fs)
NM_000383.4(AIRE):c.1427C>G (p.Ser476Ter)
NM_000383.4(AIRE):c.1429G>T (p.Gly477Ter) rs866898746
NM_000383.4(AIRE):c.1449_1476del (p.Val484fs)
NM_000383.4(AIRE):c.1480_1483del (p.Arg494fs) rs1057517072
NM_000383.4(AIRE):c.1497del (p.Ala500fs)
NM_000383.4(AIRE):c.14_15del (p.Ala5fs) rs2146375012
NM_000383.4(AIRE):c.1503+1G>T rs1156582406
NM_000383.4(AIRE):c.1513del (p.Ala505fs) rs387906294
NM_000383.4(AIRE):c.1522G>T (p.Glu508Ter)
NM_000383.4(AIRE):c.1540del (p.Asp514fs) rs2146388096
NM_000383.4(AIRE):c.1549G>T (p.Glu517Ter) rs2040608439
NM_000383.4(AIRE):c.1566+1G>C
NM_000383.4(AIRE):c.1567-2A>G rs1555873650
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter) rs1057516272
NM_000383.4(AIRE):c.1637G>C (p.Ter546Ser) rs1568932096
NM_000383.4(AIRE):c.190_226del (p.Ser64fs)
NM_000383.4(AIRE):c.193_197dup (p.Leu67fs) rs2146375818
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000383.4(AIRE):c.205C>T (p.Gln69Ter) rs2146375836
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs) rs886041124
NM_000383.4(AIRE):c.20_115del (p.Leu7_Val38del)
NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer) rs1601963938
NM_000383.4(AIRE):c.239T>G (p.Val80Gly) rs267606642
NM_000383.4(AIRE):c.247A>G (p.Lys83Glu) rs121434255
NM_000383.4(AIRE):c.253_255del (p.Tyr85del) rs2146375885
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys) rs179363882
NM_000383.4(AIRE):c.260del (p.Leu87fs) rs1057517428
NM_000383.4(AIRE):c.262G>T (p.Glu88Ter)
NM_000383.4(AIRE):c.269A>G (p.Tyr90Cys) rs179363883
NM_000383.4(AIRE):c.278T>G (p.Leu93Arg) rs179363884
NM_000383.4(AIRE):c.280C>T (p.Gln94Ter)
NM_000383.4(AIRE):c.2T>A (p.Met1Lys) rs2146374989
NM_000383.4(AIRE):c.2T>C (p.Met1Thr)
NM_000383.4(AIRE):c.2T>G (p.Met1Arg) rs2146374989
NM_000383.4(AIRE):c.322C>T (p.Gln108Ter) rs1472808103
NM_000383.4(AIRE):c.328del (p.Arg110fs) rs1162316051
NM_000383.4(AIRE):c.340A>T (p.Lys114Ter) rs2146376221
NM_000383.4(AIRE):c.347del (p.Pro116fs) rs1568926472
NM_000383.4(AIRE):c.349del (p.Ala117fs)
NM_000383.4(AIRE):c.36del (p.Arg12fs) rs2146375064
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter) rs121434256
NM_000383.4(AIRE):c.449del (p.Gly150fs)
NM_000383.4(AIRE):c.44G>A (p.Arg15His) rs179363876
NM_000383.4(AIRE):c.44G>T (p.Arg15Leu) rs179363876
NM_000383.4(AIRE):c.469C>T (p.Gln157Ter) rs1488613451
NM_000383.4(AIRE):c.47C>T (p.Thr16Met) rs179363877
NM_000383.4(AIRE):c.489del (p.Lys164fs) rs746101086
NM_000383.4(AIRE):c.489dup (p.Lys164fs) rs746101086
NM_000383.4(AIRE):c.508_517dup (p.Gln173fs) rs1179261094
NM_000383.4(AIRE):c.510_522del (p.Glu171fs) rs940485051
NM_000383.4(AIRE):c.510_522dup (p.Leu175fs) rs940485051
NM_000383.4(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.4(AIRE):c.546_547dup (p.Thr183fs)
NM_000383.4(AIRE):c.560C>G (p.Ser187Ter) rs143952576
NM_000383.4(AIRE):c.599dup (p.Ala202fs) rs1213326298
NM_000383.4(AIRE):c.709G>T (p.Glu237Ter)
NM_000383.4(AIRE):c.747del (p.Ser249fs) rs2146379302
NM_000383.4(AIRE):c.768del (p.Arg257fs)
NM_000383.4(AIRE):c.784C>T (p.Gln262Ter) rs2146379356
NM_000383.4(AIRE):c.798dup (p.Gly267fs)
NM_000383.4(AIRE):c.823del (p.Gln275fs) rs764819068
NM_000383.4(AIRE):c.868C>T (p.Gln290Ter)
NM_000383.4(AIRE):c.868del (p.Gln290fs) rs2146379725
NM_000383.4(AIRE):c.86T>C (p.Leu29Pro) rs179363879
NM_000383.4(AIRE):c.878del (p.Gln293fs)
NM_000383.4(AIRE):c.931del (p.Cys311fs) rs1555872755
NM_000383.4(AIRE):c.933T>A (p.Cys311Ter)
NM_000383.4(AIRE):c.958del (p.Leu320fs) rs1568928525
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000383.4(AIRE):c.969_975del (p.Ser324fs) rs2146381019
NM_000383.4(AIRE):c.995+3_995+5delinsTAT rs2040536458
NM_000388.4(CASR):c.1048G>T (p.Glu350Ter)
NM_000388.4(CASR):c.1054del (p.Trp352fs) rs2107632814
NM_000388.4(CASR):c.1056G>A (p.Trp352Ter) rs2107632822
NM_000388.4(CASR):c.1081C>T (p.Gln361Ter) rs2107632860
NM_000388.4(CASR):c.108dup (p.Leu37fs) rs886041823
NM_000388.4(CASR):c.1103T>G (p.Leu368Ter)
NM_000388.4(CASR):c.1114dup (p.Thr372fs)
NM_000388.4(CASR):c.112_113insC (p.Phe38fs) rs2107624936
NM_000388.4(CASR):c.1174C>T (p.Arg392Ter) rs1559959758
NM_000388.4(CASR):c.1287_1288insA (p.Ala430fs)
NM_000388.4(CASR):c.1376A>G (p.Gln459Arg) rs2107633334
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) rs104893716
NM_000388.4(CASR):c.141A>C (p.Lys47Asn) rs104893702
NM_000388.4(CASR):c.1507del (p.Ile503fs)
NM_000388.4(CASR):c.1542T>G (p.Tyr514Ter) rs2074814252
NM_000388.4(CASR):c.1557_1560del (p.Glu519fs) rs2107643705
NM_000388.4(CASR):c.1645G>A (p.Gly549Arg) rs2107648261
NM_000388.4(CASR):c.164C>T (p.Pro55Leu) rs886041154
NM_000388.4(CASR):c.164_165delinsTT (p.Pro55Leu) rs1060502847
NM_000388.4(CASR):c.166del (p.Glu56fs) rs193922424
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) rs104893690
NM_000388.4(CASR):c.1759dup (p.Asp587fs) rs2107649366
NM_000388.4(CASR):c.1773_1774del (p.Ser591_Asn592insTer) rs2107649385
NM_000388.4(CASR):c.1783del (p.His595fs) rs2107649406
NM_000388.4(CASR):c.1802del (p.Lys601fs) rs2107649423
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) rs104893712
NM_000388.4(CASR):c.1820C>A (p.Ser607Ter)
NM_000388.4(CASR):c.1835T>C (p.Phe612Ser) rs104893698
NM_000388.4(CASR):c.1846C>G (p.Leu616Val) rs104893703
NM_000388.4(CASR):c.1847_1850del (p.Leu616fs)
NM_000388.4(CASR):c.1852del (p.Leu618fs) rs2107649518
NM_000388.4(CASR):c.186-1G>A
NM_000388.4(CASR):c.186-1G>C
NM_000388.4(CASR):c.186-1G>T rs797044441
NM_000388.4(CASR):c.186-2A>G rs1350886416
NM_000388.4(CASR):c.1868del (p.Gly623fs) rs2074923990
NM_000388.4(CASR):c.1898_1932dup (p.Ala645fs) rs2074924614
NM_000388.4(CASR):c.189T>A (p.Tyr63Ter)
NM_000388.4(CASR):c.1902dup (p.Ile635fs)
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter) rs104893705
NM_000388.4(CASR):c.1972del (p.Leu658fs) rs1553768972
NM_000388.4(CASR):c.1983C>A (p.Cys661Ter) rs2074926931
NM_000388.4(CASR):c.199delinsTTCGCT (p.Gly67fs) rs1559956508
NM_000388.4(CASR):c.2008G>A (p.Gly670Arg) rs2074927550
NM_000388.4(CASR):c.2008G>C (p.Gly670Arg) rs2074927550
NM_000388.4(CASR):c.2009G>A (p.Gly670Glu) rs104893700
NM_000388.4(CASR):c.2010_2011del (p.Glu671fs) rs2074927630
NM_000388.4(CASR):c.2030del (p.Cys677fs) rs2107649818
NM_000388.4(CASR):c.2043G>T (p.Gln681His) rs121909261
NM_000388.4(CASR):c.2045del (p.Pro682fs)
NM_000388.4(CASR):c.209G>A (p.Trp70Ter) rs2107627458
NM_000388.4(CASR):c.2148dup (p.Lys717fs) rs2107650029
NM_000388.4(CASR):c.2180T>A (p.Leu727Gln) rs104893718
NM_000388.4(CASR):c.2182G>T (p.Val728Phe)
NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs) rs869320729
NM_000388.4(CASR):c.2244del (p.Ser749fs)
NM_000388.4(CASR):c.2254del (p.Arg752fs) rs2107650195
NM_000388.4(CASR):c.2297_2298dup (p.Glu767fs) rs2107650280
NM_000388.4(CASR):c.2318T>G (p.Leu773Arg) rs104893699
NM_000388.4(CASR):c.2362T>C (p.Phe788Leu) rs104893711
NM_000388.4(CASR):c.2363T>G (p.Phe788Cys) rs104893701
NM_000388.4(CASR):c.2415del (p.Lys805fs) rs2107650472
NM_000388.4(CASR):c.2417T>C (p.Phe806Ser) rs104893693
NM_000388.4(CASR):c.2429G>A (p.Ser810Asn) rs2074938472
NM_000388.4(CASR):c.2440TTC[1] (p.Phe815del)
NM_000388.4(CASR):c.244_247del (p.Asn82fs)
NM_000388.4(CASR):c.2459C>T (p.Ser820Phe) rs104893710
NM_000388.4(CASR):c.2465T>C (p.Ile822Thr) rs1553769120
NM_000388.4(CASR):c.2518del (p.Ala840fs)
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) rs104893706
NM_000388.4(CASR):c.2533_2545del (p.Ser845fs) rs2107650671
NM_000388.4(CASR):c.2626_2633del (p.Thr876fs)
NM_000388.4(CASR):c.2651del (p.Ala884fs)
NM_000388.4(CASR):c.2656C>T (p.Arg886Trp) rs1559969429
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro) rs1057520791
NM_000388.4(CASR):c.2682_3224del (p.Ser895_Val1075del) rs1553769169
NM_000388.4(CASR):c.280G>T (p.Gly94Ter) rs104893709
NM_000388.4(CASR):c.2T>C (p.Met1Thr)
NM_000388.4(CASR):c.2T>G (p.Met1Arg)
NM_000388.4(CASR):c.346G>A (p.Ala116Thr) rs104893691
NM_000388.4(CASR):c.349C>T (p.Gln117Ter) rs2107627659
NM_000388.4(CASR):c.354C>A (p.Asn118Lys) rs104893695
NM_000388.4(CASR):c.357_358del (p.Lys119fs) rs2107627671
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) rs104893708
NM_000388.4(CASR):c.379G>A (p.Glu127Lys) rs2074565202
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) rs121909260
NM_000388.4(CASR):c.382T>C (p.Phe128Leu) rs104893696
NM_000388.4(CASR):c.384C>G (p.Phe128Leu) rs1553766262
NM_000388.4(CASR):c.386G>A (p.Cys129Tyr) rs2074565392
NM_000388.4(CASR):c.396_410del (p.Glu133_Ser137del) rs1559956683
NM_000388.4(CASR):c.428G>A (p.Gly143Glu) rs121909264
NM_000388.4(CASR):c.42_48del (p.Trp15fs)
NM_000388.4(CASR):c.448_449dup (p.Thr151fs) rs1576854561
NM_000388.4(CASR):c.452C>T (p.Thr151Met) rs104893694
NM_000388.4(CASR):c.514A>G (p.Arg172Gly) rs201851934
NM_000388.4(CASR):c.528del (p.Asn176fs) rs2107631756
NM_000388.4(CASR):c.532A>G (p.Asn178Asp) rs1060502855
NM_000388.4(CASR):c.547_548del (p.Phe183fs) rs2107631801
NM_000388.4(CASR):c.553C>T (p.Arg185Ter) rs104893707
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.4(CASR):c.554del (p.Arg185fs) rs193922442
NM_000388.4(CASR):c.571G>A (p.Glu191Lys) rs104893697
NM_000388.4(CASR):c.577C>T (p.Gln193Ter) rs1064793992
NM_000388.4(CASR):c.621del (p.Trp208fs)
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys) rs2074624616
NM_000388.4(CASR):c.658C>T (p.Arg220Trp) rs1482119762
NM_000388.4(CASR):c.659G>C (p.Arg220Pro)
NM_000388.4(CASR):c.661C>T (p.Pro221Ser)
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) rs397514728
NM_000388.4(CASR):c.666del (p.Ile223fs) rs2107632061
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) rs28936684
NM_000388.4(CASR):c.680G>T (p.Arg227Leu) rs28936684
NM_000388.4(CASR):c.682G>C (p.Glu228Gln)
NM_000388.4(CASR):c.70C>T (p.Gln24Ter)
NM_000388.4(CASR):c.721del (p.Glu241fs)
NM_000388.4(CASR):c.733C>T (p.Gln245Ter) rs1553766768
NM_000388.4(CASR):c.734A>G (p.Gln245Arg)
NM_000388.4(CASR):c.772_773delinsA (p.Val258fs)
NM_000388.4(CASR):c.878G>A (p.Trp293Ter)
NM_000388.4(CASR):c.889G>A (p.Glu297Lys) rs121909259
NM_000388.4(CASR):c.924_925dup (p.Gln309fs) rs2107632553
NM_000388.4(CASR):c.961_962del (p.Ala321fs) rs2107632620
NM_000388.4(CASR):c.97_98del (p.Ile33fs)
NM_000388.4(CASR):c.994del (p.Glu332fs)
NM_000388.4:c.2628_2629insAlu
NM_000388.4:c.2643_2644insAlu
NM_000516.5:c.(?_-424)_(257_?)dup
NM_000516.7(GNAS):c.1025G>A (p.Arg342Gln) rs2146300461
NM_000516.7(GNAS):c.1040G>C (p.Arg347Thr) rs2146304864
NM_000516.7(GNAS):c.1057G>A (p.Gly353Arg) rs2146305127
NM_000516.7(GNAS):c.1067G>A (p.Arg356His) rs2146305299
NM_000516.7(GNAS):c.1097_1108dup (p.Thr369_Glu370insAlaValAspThr) rs2146305803
NM_000516.7(GNAS):c.1107_1108del (p.Asn371fs) rs2091380655
NM_000516.7(GNAS):c.1115T>C (p.Ile372Thr) rs2146305978
NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs)
NM_000516.7(GNAS):c.112del (p.Arg38fs) rs2145916486
NM_000516.7(GNAS):c.1143CAT[1] (p.Ile383del) rs1569032751
NM_000516.7(GNAS):c.1150C>G (p.Gln384Glu) rs2146306658
NM_000516.7(GNAS):c.1163T>G (p.Leu388Arg) rs397514457
NM_000516.7(GNAS):c.1173C>R (p.Tyr391Ter) rs1254063262
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys) rs397514456
NM_000516.7(GNAS):c.1174G>T (p.Glu392Ter) rs397514456
NM_000516.7(GNAS):c.119_139+17del rs2145916749
NM_000516.7(GNAS):c.124C>A (p.Arg42Ser) rs2145916888
NM_000516.7(GNAS):c.127C>G (p.Leu43Val) rs2145916985
NM_000516.7(GNAS):c.139+1G>C rs2089393181
NM_000516.7(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.7(GNAS):c.254dup (p.Asp85fs) rs2146079806
NM_000516.7(GNAS):c.271A>T (p.Lys91Ter) rs1601115202
NM_000516.7(GNAS):c.277C>T (p.Gln93Ter) rs1601115231
NM_000516.7(GNAS):c.296T>C (p.Leu99Pro) rs137854531
NM_000516.7(GNAS):c.296del (p.Leu99fs) rs2090829910
NM_000516.7(GNAS):c.302_303del (p.Glu101fs) rs2146178462
NM_000516.7(GNAS):c.308T>C (p.Ile103Thr)
NM_000516.7(GNAS):c.338T>A (p.Leu113Gln)
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_000516.7(GNAS):c.348del (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.348dup (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.3G>T (p.Met1Ile) rs2145914268
NM_000516.7(GNAS):c.432+1G>A rs1555889131
NM_000516.7(GNAS):c.433G>T (p.Glu145Ter)
NM_000516.7(GNAS):c.460_461del (p.Trp154fs)
NM_000516.7(GNAS):c.476T>C (p.Val159Ala)
NM_000516.7(GNAS):c.479G>C (p.Arg160Pro)
NM_000516.7(GNAS):c.489C>G (p.Tyr163Ter) rs372290095
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys) rs137854532
NM_000516.7(GNAS):c.507C>A (p.Tyr169Ter) rs774895847
NM_000516.7(GNAS):c.530+1G>T rs113029858
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.595C>T (p.Arg199Cys) rs2146270332
NM_000516.7(GNAS):c.596G>C (p.Arg199Pro) rs1267396058
NM_000516.7(GNAS):c.602dup (p.Val202fs) rs2146270735
NM_000516.7(GNAS):c.617_618del (p.Gly206fs) rs2146271310
NM_000516.7(GNAS):c.682C>T (p.Arg228Cys) rs2146278555
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.692G>A (p.Arg231His) rs137854538
NM_000516.7(GNAS):c.702G>C (p.Trp234Cys) rs2091303526
NM_000516.7(GNAS):c.719-29_719-13delinsACCAAAGAGAGCAAAGCCAAG rs2146283488
NM_000516.7(GNAS):c.725del (p.Thr242fs) rs1601163749
NM_000516.7(GNAS):c.750C>G (p.Ser250Arg) rs137854534
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000516.7(GNAS):c.772_773delinsGC (p.Arg258Ala) rs137854536
NM_000516.7(GNAS):c.773G>T (p.Arg258Leu) rs1555891584
NM_000516.7(GNAS):c.794G>A (p.Arg265His) rs2146285582
NM_000516.7(GNAS):c.839+1G>C rs1601164378
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_000516.7(GNAS):c.860_861del (p.Val287fs)
NM_000516.7(GNAS):c.917C>T (p.Ser306Leu) rs2146292463
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter) rs2089384365
NM_001001433.3(STX16):c.145-2060_556+343del
NM_001001433.3(STX16):c.393+557_792+364del
NM_001370259.2(MEN1):c.1006dup (p.Glu336fs) rs2136119153
NM_001370259.2(MEN1):c.1010C>A (p.Ala337Asp) rs2136118998
NM_001370259.2(MEN1):c.1013del (p.Leu338fs) rs2136118927
NM_001370259.2(MEN1):c.1018_1024del (p.Ala340fs) rs1941717148
NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter) rs1114167482
NM_001370259.2(MEN1):c.1024del (p.Ala342fs) rs1555164986
NM_001370259.2(MEN1):c.1025_1032del (p.Ala342fs)
NM_001370259.2(MEN1):c.1031C>G (p.Thr344Arg) rs1259681826
NM_001370259.2(MEN1):c.1045C>T (p.Gln349Ter) rs2136117686
NM_001370259.2(MEN1):c.1045del (p.Gln349fs) rs2136117722
NM_001370259.2(MEN1):c.1049+1G>A rs1114167489
NM_001370259.2(MEN1):c.1049+1G>C rs1114167489
NM_001370259.2(MEN1):c.1049+2T>C rs1555164946
NM_001370259.2(MEN1):c.1050-2A>G rs1565642765
NM_001370259.2(MEN1):c.1050-2A>T rs1565642765
NM_001370259.2(MEN1):c.1053C>G (p.Tyr351Ter) rs767078097
NM_001370259.2(MEN1):c.1058_1059insTG (p.Cys354fs) rs2136111335
NM_001370259.2(MEN1):c.1059C>A (p.Tyr353Ter)
NM_001370259.2(MEN1):c.105dup (p.Leu36fs) rs1555166711
NM_001370259.2(MEN1):c.1062C>A (p.Cys354Ter) rs104894265
NM_001370259.2(MEN1):c.1087_1089del (p.Glu363del) rs869025185
NM_001370259.2(MEN1):c.108_122del (p.Leu37_Leu41del) rs1555166695
NM_001370259.2(MEN1):c.1096G>T (p.Glu366Ter)
NM_001370259.2(MEN1):c.1103C>A (p.Ala368Asp) rs1555164707
NM_001370259.2(MEN1):c.1119del (p.Asn374fs)
NM_001370259.2(MEN1):c.1136dup (p.Ala380fs) rs1592640181
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe) rs794728616
NM_001370259.2(MEN1):c.1150G>T (p.Glu384Ter)
NM_001370259.2(MEN1):c.116T>A (p.Leu39Ter)
NM_001370259.2(MEN1):c.1174G>T (p.Glu392Ter) rs772588551
NM_001370259.2(MEN1):c.1174del (p.Glu392fs) rs386134247
NM_001370259.2(MEN1):c.1177C>T (p.Gln393Ter) rs1060499984
NM_001370259.2(MEN1):c.117_118del (p.Leu39fs) rs2136193574
NM_001370259.2(MEN1):c.1193dup (p.Ser399fs) rs1555164430
NM_001370259.2(MEN1):c.1198C>T (p.Gln400Ter) rs886039419
NM_001370259.2(MEN1):c.1202del (p.Gly401fs) rs1941625647
NM_001370259.2(MEN1):c.1206del (p.Ala403fs) rs1941624571
NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter) rs864622615
NM_001370259.2(MEN1):c.1214dup (p.Asp406fs) rs1114167513
NM_001370259.2(MEN1):c.1219_1220del (p.Asp406_Pro407insTer) rs1592637455
NM_001370259.2(MEN1):c.1220_1221del (p.Pro407fs) rs1592637440
NM_001370259.2(MEN1):c.1221dup (p.Glu408Ter) rs2136102861
NM_001370259.2(MEN1):c.1224_1225insGTCC (p.Cys409fs) rs1114167524
NM_001370259.2(MEN1):c.1227C>A (p.Cys409Ter)
NM_001370259.2(MEN1):c.1234del (p.His412fs)
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn) rs104894264
NM_001370259.2(MEN1):c.1252G>C (p.Asp418His) rs104894264
NM_001370259.2(MEN1):c.1252_1254delinsAAT (p.Asp418Asn)
NM_001370259.2(MEN1):c.1253_1256del (p.Asp418fs) rs1592637081
NM_001370259.2(MEN1):c.125G>C (p.Gly42Ala) rs1565652689
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr) rs386134249
NM_001370259.2(MEN1):c.1264A>T (p.Lys422Ter)
NM_001370259.2(MEN1):c.1266del (p.Lys422fs) rs2136101566
NM_001370259.2(MEN1):c.1268G>A (p.Trp423Ter)
NM_001370259.2(MEN1):c.1271AGG[1] (p.Glu425del) rs2136101303
NM_001370259.2(MEN1):c.1277_1350+28del rs1941598294
NM_001370259.2(MEN1):c.1279_1282dup (p.Pro428fs) rs2136101131
NM_001370259.2(MEN1):c.1305_1306del (p.Trp436fs)
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg) rs104894259
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg) rs104894259
NM_001370259.2(MEN1):c.1307G>A (p.Trp436Ter) rs104894260
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys) rs398124435
NM_001370259.2(MEN1):c.1311del (p.Thr438fs) rs1555164184
NM_001370259.2(MEN1):c.1317_1320del (p.Phe439fs) rs1941607846
NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter) rs794728654
NM_001370259.2(MEN1):c.1334del (p.Gly445fs) rs1565640081
NM_001370259.2(MEN1):c.1337dup (p.Phe447_Glu448insTer)
NM_001370259.2(MEN1):c.133G>A (p.Glu45Lys) rs1114167491
NM_001370259.2(MEN1):c.133G>C (p.Glu45Gln)
NM_001370259.2(MEN1):c.1345_1346insTGTC (p.Gly449fs)
NM_001370259.2(MEN1):c.1346del (p.Gly449fs) rs1941603016
NM_001370259.2(MEN1):c.134A>G (p.Glu45Gly) rs1592660101
NM_001370259.2(MEN1):c.1350+1G>A rs863223311
NM_001370259.2(MEN1):c.1350+1G>C rs863223311
NM_001370259.2(MEN1):c.1350+1_1350+11del rs764570645
NM_001370259.2(MEN1):c.1350+2T>C rs1555164115
NM_001370259.2(MEN1):c.1350+2T>G
NM_001370259.2(MEN1):c.1351-1G>A rs794728629
NM_001370259.2(MEN1):c.1351-1G>C rs794728629
NM_001370259.2(MEN1):c.1351-1G>T rs794728629
NM_001370259.2(MEN1):c.1351-2A>C rs1060499986
NM_001370259.2(MEN1):c.1351-2A>G rs1060499986
NM_001370259.2(MEN1):c.1351-2_*132del rs1565634591
NM_001370259.2(MEN1):c.1351-3_1359del rs2136094253
NM_001370259.2(MEN1):c.1351-9C>G rs1592634740
NM_001370259.2(MEN1):c.1356dup (p.Gln453fs) rs2136094331
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp) rs778670301
NM_001370259.2(MEN1):c.1363dup (p.Val455fs)
NM_001370259.2(MEN1):c.1375_1382del (p.Ser459fs) rs1555163883
NM_001370259.2(MEN1):c.1375_1391dup (p.Ala467fs) rs2136092832
NM_001370259.2(MEN1):c.1382_1389dup (p.Ala464fs) rs1114167531
NM_001370259.2(MEN1):c.1382_1404dup (p.Glu469fs) rs1555163780
NM_001370259.2(MEN1):c.1387G>T (p.Glu463Ter)
NM_001370259.2(MEN1):c.1391_1392insCAGAGGCCGAGGC (p.Ala465fs)
NM_001370259.2(MEN1):c.1391dup (p.Ala465fs) rs2136092746
NM_001370259.2(MEN1):c.1393_1396del (p.Ala465fs)
NM_001370259.2(MEN1):c.1393del (p.Ala465fs) rs2136092552
NM_001370259.2(MEN1):c.139_143dup (p.Ala49fs)
NM_001370259.2(MEN1):c.1400_1413del (p.Ala467fs) rs1592633463
NM_001370259.2(MEN1):c.1406_1413dup (p.Gly472fs) rs1114167536
NM_001370259.2(MEN1):c.1412G>A (p.Trp471Ter) rs1060499991
NM_001370259.2(MEN1):c.1413G>A (p.Trp471Ter) rs1941556077
NM_001370259.2(MEN1):c.1415del (p.Gly472fs)
NM_001370259.2(MEN1):c.1420del (p.Glu474fs) rs1592633378
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter) rs863224526
NM_001370259.2(MEN1):c.142del (p.Leu48fs) rs1555166681
NM_001370259.2(MEN1):c.1435_1441del (p.Arg479fs) rs2136089949
NM_001370259.2(MEN1):c.1437del (p.Arg480fs) rs1941550964
NM_001370259.2(MEN1):c.1456G>T (p.Glu486Ter) rs2136089217
NM_001370259.2(MEN1):c.1473del (p.Glu491fs) rs1555163646
NM_001370259.2(MEN1):c.1478del (p.Pro493fs)
NM_001370259.2(MEN1):c.1505dup (p.Leu504fs) rs1555163591
NM_001370259.2(MEN1):c.1522C>T (p.Gln508Ter) rs386833403
NM_001370259.2(MEN1):c.152del (p.Asn51fs) rs869312167
NM_001370259.2(MEN1):c.152dup (p.Asn51fs) rs869312167
NM_001370259.2(MEN1):c.1532_1541del (p.Val511fs) rs1941529928
NM_001370259.2(MEN1):c.1532dup (p.Ser512fs) rs1941531859
NM_001370259.2(MEN1):c.1533_1534dup (p.Ser512fs) rs794728659
NM_001370259.2(MEN1):c.1535C>G (p.Ser512Ter) rs141679530
NM_001370259.2(MEN1):c.1539del (p.Arg516fs) rs1592631908
NM_001370259.2(MEN1):c.1546del (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.1546dup (p.Arg516fs) rs767319284
NM_001370259.2(MEN1):c.1548dup (p.Lys517fs) rs761695866
NM_001370259.2(MEN1):c.1549A>T (p.Lys517Ter) rs794728630
NM_001370259.2(MEN1):c.1556del (p.Pro519fs) rs2136084930
NM_001370259.2(MEN1):c.1574del (p.Thr525fs) rs1114167514
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter) rs104894261
NM_001370259.2(MEN1):c.1590del (p.Gly531fs) rs886039421
NM_001370259.2(MEN1):c.1609del (p.Val537fs) rs2136083128
NM_001370259.2(MEN1):c.160del (p.Ile54fs)
NM_001370259.2(MEN1):c.1642_1673delinsCC (p.Gly548_Met558delinsPro)
NM_001370259.2(MEN1):c.1657_1658del (p.Phe553fs) rs2136081238
NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter) rs794728631
NM_001370259.2(MEN1):c.1660del (p.Gln554fs) rs2136081113
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.1670del (p.Lys557fs) rs1592630079
NM_001370259.2(MEN1):c.1672_1679del (p.Met558fs) rs1941501683
NM_001370259.2(MEN1):c.1674dup (p.Lys559fs) rs1565635941
NM_001370259.2(MEN1):c.168del (p.Asn57fs) rs1060499990
NM_001370259.2(MEN1):c.16_17del (p.Ala6fs) rs1114167523
NM_001370259.2(MEN1):c.1705_1706del (p.Lys569fs)
NM_001370259.2(MEN1):c.1715C>A (p.Ser572Ter)
NM_001370259.2(MEN1):c.1738_1739insAA (p.Thr580fs)
NM_001370259.2(MEN1):c.190C>T (p.Gln64Ter)
NM_001370259.2(MEN1):c.195del (p.Ser66fs)
NM_001370259.2(MEN1):c.196_200dup (p.Asp70fs) rs1555166609
NM_001370259.2(MEN1):c.19C>T (p.Gln7Ter) rs1942027113
NM_001370259.2(MEN1):c.1A>C (p.Met1Leu) rs386134250
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001370259.2(MEN1):c.1A>T (p.Met1Leu) rs386134250
NM_001370259.2(MEN1):c.201del (p.Ala68fs) rs2136189816
NM_001370259.2(MEN1):c.202_206dup (p.Asp70fs) rs730882136
NM_001370259.2(MEN1):c.207del (p.Asp70fs) rs1057517902
NM_001370259.2(MEN1):c.208_211del (p.Asp70fs)
NM_001370259.2(MEN1):c.211_212del (p.Pro71fs) rs386134251
NM_001370259.2(MEN1):c.216_217insA (p.Gly73fs)
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter) rs1555166567
NM_001370259.2(MEN1):c.234del (p.Val80fs) rs2136188431
NM_001370259.2(MEN1):c.234dup (p.Pro79fs) rs2136188431
NM_001370259.2(MEN1):c.237del (p.Val80fs) rs1114167486
NM_001370259.2(MEN1):c.238del (p.Val80fs) rs2136188216
NM_001370259.2(MEN1):c.241del (p.Ala81fs)
NM_001370259.2(MEN1):c.248_266del (p.Leu83fs) rs2136187161
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs) rs587776841
NM_001370259.2(MEN1):c.252_253insTT (p.Ile85fs) rs386134253
NM_001370259.2(MEN1):c.252dup (p.Ile85fs) rs386134253
NM_001370259.2(MEN1):c.259_260insTCGC (p.Ala87fs)
NM_001370259.2(MEN1):c.269_270dup (p.Ala91fs) rs1941994887
NM_001370259.2(MEN1):c.269dup (p.Tyr90Ter) rs2136187018
NM_001370259.2(MEN1):c.274del (p.Arg92fs) rs2136186754
NM_001370259.2(MEN1):c.280_284dup (p.Gln96fs) rs1555166494
NM_001370259.2(MEN1):c.286C>T (p.Gln96Ter)
NM_001370259.2(MEN1):c.292C>T (p.Arg98Ter) rs886039413
NM_001370259.2(MEN1):c.2T>A (p.Met1Lys)
NM_001370259.2(MEN1):c.307del (p.Leu103fs) rs794728639
NM_001370259.2(MEN1):c.312_315dup (p.Tyr106fs) rs1592658517
NM_001370259.2(MEN1):c.313dup (p.Leu105fs) rs2136184555
NM_001370259.2(MEN1):c.317_318del (p.Tyr106fs) rs1555166466
NM_001370259.2(MEN1):c.318T>A (p.Tyr106Ter) rs1060499987
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
NM_001370259.2(MEN1):c.322C>T (p.Arg108Ter) rs794728647
NM_001370259.2(MEN1):c.322_323insT (p.Arg108fs) rs1565651568
NM_001370259.2(MEN1):c.323del (p.Arg108fs) rs878855191
NM_001370259.2(MEN1):c.332del (p.Gly111fs)
NM_001370259.2(MEN1):c.340dup (p.Ser114fs) rs886041213
NM_001370259.2(MEN1):c.343del (p.Arg115fs)
NM_001370259.2(MEN1):c.346G>T (p.Glu116Ter) rs1060499992
NM_001370259.2(MEN1):c.350del (p.Leu117fs) rs1555166387
NM_001370259.2(MEN1):c.355AAG[1] (p.Lys120del) rs794728657
NM_001370259.2(MEN1):c.358A>T (p.Lys120Ter) rs878855192
NM_001370259.2(MEN1):c.35C>T (p.Pro12Leu) rs794728614
NM_001370259.2(MEN1):c.35dup (p.Leu13fs)
NM_001370259.2(MEN1):c.367del (p.Asp123fs) rs1941982919
NM_001370259.2(MEN1):c.371_372del (p.Val124fs) rs1555166368
NM_001370259.2(MEN1):c.374dup (p.Trp126fs)
NM_001370259.2(MEN1):c.375_376del (p.Ile125fs)
NM_001370259.2(MEN1):c.377G>A (p.Trp126Ter) rs2136181049
NM_001370259.2(MEN1):c.378G>A (p.Trp126Ter) rs1555166365
NM_001370259.2(MEN1):c.386del (p.Leu129fs) rs1565651223
NM_001370259.2(MEN1):c.392_407dup (p.Asp136fs)
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_001370259.2(MEN1):c.402del (p.Phe134fs) rs397515385
NM_001370259.2(MEN1):c.406_415delinsTCCCT (p.Asp136fs) rs1592657785
NM_001370259.2(MEN1):c.407_414del (p.Asp136fs)
NM_001370259.2(MEN1):c.415C>G (p.His139Asp) rs104894263
NM_001370259.2(MEN1):c.415C>T (p.His139Tyr) rs104894263
NM_001370259.2(MEN1):c.416del (p.His139fs)
NM_001370259.2(MEN1):c.418dup (p.Ile140fs)
NM_001370259.2(MEN1):c.41_42delinsT (p.Arg14fs)
NM_001370259.2(MEN1):c.421C>T (p.Gln141Ter) rs886039553
NM_001370259.2(MEN1):c.422A>T (p.Gln141Leu)
NM_001370259.2(MEN1):c.432del (p.Phe144fs) rs1064793613
NM_001370259.2(MEN1):c.442del (p.Thr148fs) rs1941975256
NM_001370259.2(MEN1):c.446-1G>A rs1064793672
NM_001370259.2(MEN1):c.446-1G>C rs1064793672
NM_001370259.2(MEN1):c.446-2A>C rs886042035
NM_001370259.2(MEN1):c.446-2A>G rs886042035
NM_001370259.2(MEN1):c.446-3C>G
NM_001370259.2(MEN1):c.450del (p.Lys151fs)
NM_001370259.2(MEN1):c.458A>T (p.Asp153Val) rs1565648789
NM_001370259.2(MEN1):c.466G>C (p.Gly156Arg) rs1085307471
NM_001370259.2(MEN1):c.467G>A (p.Gly156Asp) rs794728648
NM_001370259.2(MEN1):c.474del (p.Phe159fs) rs2136158237
NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro) rs1565648656
NM_001370259.2(MEN1):c.492del (p.Cys165fs)
NM_001370259.2(MEN1):c.495C>A (p.Cys165Ter) rs1592651767
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro) rs386134256
NM_001370259.2(MEN1):c.506_507dup (p.Leu170fs) rs2136156268
NM_001370259.2(MEN1):c.525_526insTT (p.Ala176fs) rs1941864588
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro) rs376872829
NM_001370259.2(MEN1):c.534dup (p.Glu179Ter) rs2136154587
NM_001370259.2(MEN1):c.537G>C (p.Glu179Asp) rs1555165811
NM_001370259.2(MEN1):c.537_538delinsTT (p.Glu179_Asp180delinsAspTyr) rs1555165809
NM_001370259.2(MEN1):c.542A>G (p.His181Arg) rs1941861451
NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter) rs794728650
NM_001370259.2(MEN1):c.549G>A (p.Trp183Ter)
NM_001370259.2(MEN1):c.549G>C (p.Trp183Cys) rs2136153753
NM_001370259.2(MEN1):c.551T>A (p.Val184Glu) rs104894262
NM_001370259.2(MEN1):c.563_564del (p.Pro188fs) rs1555165756
NM_001370259.2(MEN1):c.564del (p.Asn189fs)
NM_001370259.2(MEN1):c.574C>T (p.Gln192Ter)
NM_001370259.2(MEN1):c.578dup (p.Ala194fs)
NM_001370259.2(MEN1):c.584_593del (p.Glu195fs)
NM_001370259.2(MEN1):c.593G>A (p.Trp198Ter) rs104894258
NM_001370259.2(MEN1):c.594G>A (p.Trp198Ter) rs104894257
NM_001370259.2(MEN1):c.605del (p.Gly202fs)
NM_001370259.2(MEN1):c.623_1050-143del
NM_001370259.2(MEN1):c.625C>T (p.Gln209Ter) rs1565647767
NM_001370259.2(MEN1):c.625del (p.Gln209fs) rs1114167538
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs) rs794728640
NM_001370259.2(MEN1):c.631_634del (p.Val211fs) rs1941851693
NM_001370259.2(MEN1):c.633del (p.Asn212fs) rs878855196
NM_001370259.2(MEN1):c.639del (p.Gly214fs) rs1941850919
NM_001370259.2(MEN1):c.643G>A (p.Val215Met) rs794728621
NM_001370259.2(MEN1):c.646del (p.Ala216fs) rs2136148702
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp) rs794728620
NM_001370259.2(MEN1):c.654+1G>A rs794728622
NM_001370259.2(MEN1):c.654+1G>T rs794728622
NM_001370259.2(MEN1):c.654+1del rs1057518903
NM_001370259.2(MEN1):c.655-1G>A rs1592649615
NM_001370259.2(MEN1):c.655-1G>C rs1592649615
NM_001370259.2(MEN1):c.655-2A>G
NM_001370259.2(MEN1):c.659G>A (p.Trp220Ter) rs1565647197
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg) rs104894256
NM_001370259.2(MEN1):c.660G>A (p.Trp220Ter) rs886039414
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro) rs886039415
NM_001370259.2(MEN1):c.681C>A (p.Tyr227Ter) rs778921501
NM_001370259.2(MEN1):c.682_685dup (p.Arg229fs) rs1114167519
NM_001370259.2(MEN1):c.685del (p.Arg229fs)
NM_001370259.2(MEN1):c.697A>T (p.Lys233Ter) rs1114167499
NM_001370259.2(MEN1):c.6del (p.Gly2_Leu3insTer) rs2136197117
NM_001370259.2(MEN1):c.6dup (p.Leu3fs) rs2136197117
NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr) rs794728624
NM_001370259.2(MEN1):c.723_724del (p.Ala242fs) rs1592649069
NM_001370259.2(MEN1):c.725C>T (p.Ala242Val) rs2136141530
NM_001370259.2(MEN1):c.734del (p.Pro245fs) rs1565646772
NM_001370259.2(MEN1):c.739_745del (p.Ile247fs) rs1555165503
NM_001370259.2(MEN1):c.739dup (p.Ile247fs) rs2136141104
NM_001370259.2(MEN1):c.746_749dup (p.Thr251fs) rs1592648830
NM_001370259.2(MEN1):c.758C>G (p.Ser253Trp) rs386134259
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu) rs386134259
NM_001370259.2(MEN1):c.758del (p.Ser253fs) rs1592648765
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys) rs104894268
NM_001370259.2(MEN1):c.76G>A (p.Glu26Lys) rs28931612
NM_001370259.2(MEN1):c.770TGCAGC[3] (p.257LQ[3]) rs1555165485
NM_001370259.2(MEN1):c.772C>T (p.Gln258Ter) rs886039416
NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter) rs104894266
NM_001370259.2(MEN1):c.781C>T (p.Gln261Ter) rs1057520733
NM_001370259.2(MEN1):c.783+1G>A rs794728652
NM_001370259.2(MEN1):c.783+1G>C rs794728652
NM_001370259.2(MEN1):c.784-9G>A rs794728625
NM_001370259.2(MEN1):c.791T>C (p.Leu264Pro) rs1941794175
NM_001370259.2(MEN1):c.792del (p.Trp265fs)
NM_001370259.2(MEN1):c.794G>A (p.Trp265Ter) rs2136134076
NM_001370259.2(MEN1):c.795G>A (p.Trp265Ter) rs1592647398
NM_001370259.2(MEN1):c.796del (p.Leu266fs)
NM_001370259.2(MEN1):c.823del (p.Arg275fs) rs1555165360
NM_001370259.2(MEN1):c.824+1G>A rs1060499976
NM_001370259.2(MEN1):c.824+1G>T rs1060499976
NM_001370259.2(MEN1):c.824G>A (p.Arg275Lys) rs1187634059
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter) rs1060503789
NM_001370259.2(MEN1):c.831del (p.Met278fs) rs2136129908
NM_001370259.2(MEN1):c.837del (p.Ala279_Leu280insTer)
NM_001370259.2(MEN1):c.839T>A (p.Leu280Ter)
NM_001370259.2(MEN1):c.851C>A (p.Ala284Glu) rs1565645563
NM_001370259.2(MEN1):c.859G>T (p.Glu287Ter) rs2136129231
NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter) rs794728615
NM_001370259.2(MEN1):c.862G>T (p.Glu288Ter)
NM_001370259.2(MEN1):c.879del (p.Gly294fs)
NM_001370259.2(MEN1):c.881dup (p.Arg295fs)
NM_001370259.2(MEN1):c.912+1G>A rs398124437
NM_001370259.2(MEN1):c.912+1G>C rs398124437
NM_001370259.2(MEN1):c.912+2T>G rs1555165256
NM_001370259.2(MEN1):c.913-1G>A rs1057518572
NM_001370259.2(MEN1):c.913-1G>C rs1057518572
NM_001370259.2(MEN1):c.913-2A>G rs1114167498
NM_001370259.2(MEN1):c.923C>A (p.Ser308Ter) rs1565644366
NM_001370259.2(MEN1):c.935_936insTCGGGATGAA (p.Tyr313fs)
NM_001370259.2(MEN1):c.936C>A (p.Tyr312Ter) rs386134260
NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter) rs386134260
NM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter) rs1555165128
NM_001370259.2(MEN1):c.940_1050-227del
NM_001370259.2(MEN1):c.943del (p.Asp315fs)
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr) rs2136120898
NM_001370259.2(MEN1):c.960dup (p.Tyr321fs)
NM_001370259.2(MEN1):c.963C>A (p.Tyr321Ter) rs1555165094
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter) rs750904332
NM_001370259.2(MEN1):c.969C>G (p.Tyr323Ter) rs750904332
NM_001370259.2(MEN1):c.981C>G (p.Tyr327Ter) rs1592643488
NM_002067.5(GNA11):c.1023C>G (p.Phe341Leu) rs140749796
NM_002067.5(GNA11):c.178C>T (p.Arg60Cys) rs587777021
NM_002067.5(GNA11):c.179G>T (p.Arg60Leu) rs587777707
NM_002067.5(GNA11):c.542G>A (p.Arg181Gln) rs587777020
NM_002067.5(GNA11):c.632C>G (p.Ser211Trp) rs587777022
NM_004064.5(CDKN1B):c.-31AG[1] rs774454456
NM_004752.3(GCM2):c.[1136T>A;751C>G]
NM_004752.4(GCM2):c.1389del (p.His465fs) rs2113242520
NM_004752.4(GCM2):c.1400del (p.Pro467fs) rs2113242469
NM_004752.4(GCM2):c.140G>T (p.Arg47Leu) rs104893959
NM_004752.4(GCM2):c.22G>T (p.Glu8Ter)
NM_004752.4(GCM2):c.408C>A (p.Tyr136Ter) rs1554103179
NM_004752.4(GCM2):c.893del (p.Ile298fs) rs886037646
NM_018646.6(TRPV6):c.530_533dup (p.Arg179fs) rs766719790
NM_018646.6(TRPV6):c.607+5G>A rs1200458339
NM_024529.5(CDC73):c.1001_1004del (p.Thr334fs) rs1677132309
NM_024529.5(CDC73):c.1012C>T (p.Gln338Ter) rs2103178097
NM_024529.5(CDC73):c.1052del (p.Pro351fs) rs1553288362
NM_024529.5(CDC73):c.1055del (p.Asn352fs)
NM_024529.5(CDC73):c.10del (p.Val4fs) rs2103111548
NM_024529.5(CDC73):c.1174_1178del (p.Lys392fs)
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter) rs1677688362
NM_024529.5(CDC73):c.1236dup (p.Gln413fs)
NM_024529.5(CDC73):c.1247del (p.Gly416fs) rs1572215344
NM_024529.5(CDC73):c.128G>A (p.Trp43Ter) rs121434263
NM_024529.5(CDC73):c.12_31dup (p.Tyr11fs) rs1558276082
NM_024529.5(CDC73):c.131+1G>A rs587776558
NM_024529.5(CDC73):c.131+1G>T rs587776558
NM_024529.5(CDC73):c.131+1del
NM_024529.5(CDC73):c.1377G>A (p.Trp459Ter)
NM_024529.5(CDC73):c.1397del (p.Pro466fs) rs2102061886
NM_024529.5(CDC73):c.13_30del (p.Leu5_Gln10del) rs587776561
NM_024529.5(CDC73):c.1405dup (p.Ile469fs) rs1677757559
NM_024529.5(CDC73):c.1417dup (p.Ile473fs) rs2102061912
NM_024529.5(CDC73):c.157G>T (p.Glu53Ter) rs1675541893
NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter) rs121434265
NM_024529.5(CDC73):c.17del (p.Ser6fs)
NM_024529.5(CDC73):c.191T>C (p.Leu64Pro) rs121434264
NM_024529.5(CDC73):c.1A>G (p.Met1Val) rs1558276054
NM_024529.5(CDC73):c.201del (p.His68fs) rs2103114004
NM_024529.5(CDC73):c.220dup (p.Tyr74fs) rs1572142597
NM_024529.5(CDC73):c.237+1G>A rs794727303
NM_024529.5(CDC73):c.237+1G>C rs794727303
NM_024529.5(CDC73):c.238-1G>A rs587776559
NM_024529.5(CDC73):c.245del (p.Asn82fs) rs1060500009
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter) rs121434262
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter) rs1558280170
NM_024529.5(CDC73):c.28C>T (p.Gln10Ter)
NM_024529.5(CDC73):c.2dup (p.Met1fs)
NM_024529.5(CDC73):c.331del (p.Ser111fs) rs2103121472
NM_024529.5(CDC73):c.341T>A (p.Leu114Ter) rs2103121496
NM_024529.5(CDC73):c.343G>T (p.Glu115Ter)
NM_024529.5(CDC73):c.355C>T (p.Gln119Ter) rs886041278
NM_024529.5(CDC73):c.358C>T (p.Arg120Ter) rs1572150469
NM_024529.5(CDC73):c.35_41del (p.Asn12fs)
NM_024529.5(CDC73):c.375dup (p.Arg126fs) rs1572150584
NM_024529.5(CDC73):c.376C>T (p.Arg126Ter) rs1553278844
NM_024529.5(CDC73):c.3G>A (p.Met1Ile) rs28942098
NM_024529.5(CDC73):c.406A>T (p.Lys136Ter) rs2103121703
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter) rs2103121721
NM_024529.5(CDC73):c.423+1G>A rs1131691732
NM_024529.5(CDC73):c.43A>T (p.Lys15Ter)
NM_024529.5(CDC73):c.455_456del (p.Arg152fs) rs1060500019
NM_024529.5(CDC73):c.483dup (p.Glu162fs) rs1553279085
NM_024529.5(CDC73):c.496C>T (p.Gln166Ter) rs2103123807
NM_024529.5(CDC73):c.4del (p.Ala2fs) rs1060500020
NM_024529.5(CDC73):c.501_502del (p.Glu168fs) rs2103123824
NM_024529.5(CDC73):c.505C>T (p.Gln169Ter) rs1553279088
NM_024529.5(CDC73):c.510del (p.Arg171fs) rs2103123828
NM_024529.5(CDC73):c.520_523del (p.Ser174fs)
NM_024529.5(CDC73):c.529_530dup (p.Met177fs)
NM_024529.5(CDC73):c.53_54del (p.Ile18fs) rs1558276157
NM_024529.5(CDC73):c.56_57del (p.Val19fs)
NM_024529.5(CDC73):c.626_629del (p.Lys209fs) rs2103126261
NM_024529.5(CDC73):c.628C>T (p.Gln210Ter) rs2103126265
NM_024529.5(CDC73):c.64G>T (p.Gly22Ter) rs1675465013
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter) rs770439843
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs) rs80356649
NM_024529.5(CDC73):c.685A>T (p.Arg229Ter)
NM_024529.5(CDC73):c.685_688del (p.Arg229fs) rs760591174
NM_024529.5(CDC73):c.687_688del (p.Arg229fs) rs760591174
NM_024529.5(CDC73):c.687_688dup (p.Val230fs) rs760591174
NM_024529.5(CDC73):c.69_70delinsTT (p.Glu24Ter)
NM_024529.5(CDC73):c.700C>T (p.Arg234Ter) rs1675915231
NM_024529.5(CDC73):c.701dup (p.Thr235fs)
NM_024529.5(CDC73):c.718del (p.Ser240fs) rs1572154885
NM_024529.5(CDC73):c.766_767del (p.Val256fs) rs80356650
NM_024529.5(CDC73):c.7dup (p.Asp3fs) rs1675462891
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter) rs2103130589
NM_024529.5(CDC73):c.85G>T (p.Glu29Ter) rs1131691698
NM_024529.5(CDC73):c.85del (p.Glu29fs) rs587776560
NM_024529.5(CDC73):c.877dup (p.Tyr293fs) rs2103132218
NM_024529.5(CDC73):c.878dup (p.Tyr293Ter) rs2103132220
NM_024529.5(CDC73):c.893del (p.Phe298fs) rs2103132250
NM_024529.5(CDC73):c.96del (p.Trp32fs)
NM_024529.5(CDC73):c.99del (p.Lys34fs)
NM_130799.2(MEN1):c.1351_*820del (p.Val451fs)
Single allele

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