ClinVar Miner

List of variants reported as pathogenic for parathyroid gland disorder by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 638
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
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_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_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.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.2393C>T (p.Pro798Leu) rs1060502856 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
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.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
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.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.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.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.1522G>T (p.Glu508Ter)
NM_000383.4(AIRE):c.1540del (p.Asp514fs) rs2146388096
NM_000383.4(AIRE):c.1566+1G>C
NM_000383.4(AIRE):c.157G>T (p.Glu53Ter) rs1057516272
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.21_43dup (p.Arg15delinsHisAlaGlyPheTer) rs1601963938
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>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>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.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.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.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.2010_2011del (p.Glu671fs) rs2074927630
NM_000388.4(CASR):c.2030del (p.Cys677fs) rs2107649818
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.2182G>T (p.Val728Phe)
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.2363T>G (p.Phe788Cys) rs104893701
NM_000388.4(CASR):c.2415del (p.Lys805fs) rs2107650472
NM_000388.4(CASR):c.2440TTC[1] (p.Phe815del)
NM_000388.4(CASR):c.244_247del (p.Asn82fs)
NM_000388.4(CASR):c.2518del (p.Ala840fs)
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.2T>C (p.Met1Thr)
NM_000388.4(CASR):c.2T>G (p.Met1Arg)
NM_000388.4(CASR):c.349C>T (p.Gln117Ter) rs2107627659
NM_000388.4(CASR):c.357_358del (p.Lys119fs) rs2107627671
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) rs121909260
NM_000388.4(CASR):c.384C>G (p.Phe128Leu) rs1553766262
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.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.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.2643_2644insAlu
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.1025_1032del (p.Ala342fs)
NM_001370259.2(MEN1):c.1031C>G (p.Thr344Arg) rs1259681826
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.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.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.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.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.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+1_1350+11del rs764570645
NM_001370259.2(MEN1):c.1350+2T>C rs1555164115
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.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.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.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.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.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>G rs886042035
NM_001370259.2(MEN1):c.446-3C>G
NM_001370259.2(MEN1):c.458A>T (p.Asp153Val) rs1565648789
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.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.623_1050-143del
NM_001370259.2(MEN1):c.625C>T (p.Gln209Ter) rs1565647767
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs) rs794728640
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.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.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.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.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.823del (p.Arg275fs) rs1555165360
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.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_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.1377G>A (p.Trp459Ter)
NM_024529.5(CDC73):c.1397del (p.Pro466fs) rs2102061886
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.1A>G (p.Met1Val) rs1558276054
NM_024529.5(CDC73):c.201del (p.His68fs) rs2103114004
NM_024529.5(CDC73):c.237+1G>A rs794727303
NM_024529.5(CDC73):c.237+1G>C rs794727303
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.376C>T (p.Arg126Ter) rs1553278844
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.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.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.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.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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.