ClinVar Miner

List of variants in gene PTPN11

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Gene type:
ClinVar version:
Total variants: 369
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HGVS dbSNP
NC_000012.11:g.(?_112856896)_(112942588_?)dup
NC_000012.11:g.(?_112915455)_(112915819_?)del
NG_007459.1:g.45924_60608delinsCA
NM_002834.3(PTPN11):c.*13A>G rs201957261
NM_002834.3(PTPN11):c.179_181delGTG (p.Gly60del) rs80338836
NM_002834.3:c.1-140delG
NM_002834.4(PTPN11):c.*1006del rs146940557
NM_002834.4(PTPN11):c.*1015C>G rs538946251
NM_002834.4(PTPN11):c.*1035A>G rs886048970
NM_002834.4(PTPN11):c.*1157_*1159ATG[13] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[14] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[16] rs80269561
NM_002834.4(PTPN11):c.*1157_*1159ATG[17] rs80269561
NM_002834.4(PTPN11):c.*1332G>A rs886048973
NM_002834.4(PTPN11):c.*1374G>C rs139266170
NM_002834.4(PTPN11):c.*1536T>C rs371375321
NM_002834.4(PTPN11):c.*1536T>G rs371375321
NM_002834.4(PTPN11):c.*1588C>G rs886048974
NM_002834.4(PTPN11):c.*1729A>G rs886048975
NM_002834.4(PTPN11):c.*1805C>T rs188162577
NM_002834.4(PTPN11):c.*1806G>A rs766598691
NM_002834.4(PTPN11):c.*1946G>A rs886048976
NM_002834.4(PTPN11):c.*2493C>T rs886048977
NM_002834.4(PTPN11):c.*2540G>T rs886048978
NM_002834.4(PTPN11):c.*2731G>A rs768622106
NM_002834.4(PTPN11):c.*2907A>C rs886048979
NM_002834.4(PTPN11):c.*2927T>A rs190612693
NM_002834.4(PTPN11):c.*2928A>T rs565075386
NM_002834.4(PTPN11):c.*3006G>A rs141870860
NM_002834.4(PTPN11):c.*3043C>T rs41307084
NM_002834.4(PTPN11):c.*3231T>G rs769489372
NM_002834.4(PTPN11):c.*3244A>G rs763237386
NM_002834.4(PTPN11):c.*325G>A rs192080780
NM_002834.4(PTPN11):c.*329T>C rs576039073
NM_002834.4(PTPN11):c.*33-17_*33-13del rs730880991
NM_002834.4(PTPN11):c.*3300T>C rs886048980
NM_002834.4(PTPN11):c.*3381A>G rs374962107
NM_002834.4(PTPN11):c.*3720T>C rs886048981
NM_002834.4(PTPN11):c.*4019C>T rs886048982
NM_002834.4(PTPN11):c.*41_*46del rs886048967
NM_002834.4(PTPN11):c.*50C>T rs730880328
NM_002834.4(PTPN11):c.*656del rs886048968
NM_002834.4(PTPN11):c.*670G>A rs112287134
NM_002834.4(PTPN11):c.*687C>T rs748512308
NM_002834.4(PTPN11):c.*740C>T rs886048969
NM_002834.4(PTPN11):c.*775G>A rs181946923
NM_002834.4(PTPN11):c.*838G>A rs142648640
NM_002834.4(PTPN11):c.-139G>A rs886048964
NM_002834.4(PTPN11):c.-13G>A rs760374212
NM_002834.4(PTPN11):c.-179G>C rs545369072
NM_002834.4(PTPN11):c.-245C>G rs886048963
NM_002834.4(PTPN11):c.-45T>G rs587781131
NM_002834.4(PTPN11):c.1004A>C (p.Gln335Pro) rs886041622
NM_002834.4(PTPN11):c.1011G>A (p.Thr337=) rs371951288
NM_002834.4(PTPN11):c.1023T>C (p.Phe341=) rs762516252
NM_002834.4(PTPN11):c.1027C>T (p.Arg343Trp) rs1373621596
NM_002834.4(PTPN11):c.1028G>A (p.Arg343Gln) rs535800148
NM_002834.4(PTPN11):c.103A>C (p.Lys35Gln)
NM_002834.4(PTPN11):c.1041A>G (p.Gln347=)
NM_002834.4(PTPN11):c.1047C>T (p.Asn349=) rs1222504763
NM_002834.4(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700
NM_002834.4(PTPN11):c.1051C>T (p.Arg351Ter) rs923052172
NM_002834.4(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002834.4(PTPN11):c.1057A>C (p.Ile353Leu)
NM_002834.4(PTPN11):c.1093-1G>T rs398122862
NM_002834.4(PTPN11):c.1093-9C>A rs12301915
NM_002834.4(PTPN11):c.1093A>C (p.Ser365Arg) rs1566183223
NM_002834.4(PTPN11):c.10C>G (p.Arg4Gly) rs886041517
NM_002834.4(PTPN11):c.1112G>A (p.Trp371Ter) rs1555270113
NM_002834.4(PTPN11):c.1124A>G (p.Tyr375Cys) rs41299183
NM_002834.4(PTPN11):c.1144G>A (p.Val382Ile) rs1214510641
NM_002834.4(PTPN11):c.115G>A (p.Gly39Arg) rs886041585
NM_002834.4(PTPN11):c.1161C>T (p.Asn387=) rs727505180
NM_002834.4(PTPN11):c.1162G>A (p.Val388Ile) rs749523268
NM_002834.4(PTPN11):c.1173C>T (p.Ser391=)
NM_002834.4(PTPN11):c.1174G>A (p.Ala392Thr) rs774356443
NM_002834.4(PTPN11):c.1181A>G (p.His394Arg) rs1415532476
NM_002834.4(PTPN11):c.1190C>T (p.Thr397Met) rs767503386
NM_002834.4(PTPN11):c.1191G>T (p.Thr397=) rs775571445
NM_002834.4(PTPN11):c.119A>G (p.Asp40Gly) rs397516795
NM_002834.4(PTPN11):c.1216G>A (p.Val406Ile)
NM_002834.4(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_002834.4(PTPN11):c.1224+15G>A rs373271861
NM_002834.4(PTPN11):c.1225-7A>G rs727504397
NM_002834.4(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699
NM_002834.4(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.4(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.4(PTPN11):c.1261C>T (p.Arg421Trp) rs1355732645
NM_002834.4(PTPN11):c.1262G>A (p.Arg421Gln) rs1420362815
NM_002834.4(PTPN11):c.1277A>C (p.His426Pro) rs727505389
NM_002834.4(PTPN11):c.1278C>T (p.His426=) rs886038519
NM_002834.4(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.4(PTPN11):c.1281C>T (p.Gly427=) rs753173299
NM_002834.4(PTPN11):c.1282G>A (p.Val428Met) rs397507536
NM_002834.4(PTPN11):c.1315del (p.Leu439fs) rs398122860
NM_002834.4(PTPN11):c.1327C>T (p.His443Tyr) rs779236638
NM_002834.4(PTPN11):c.132C>A (p.Ser44=) rs397507502
NM_002834.4(PTPN11):c.132C>T (p.Ser44=) rs397507502
NM_002834.4(PTPN11):c.1361C>T (p.Pro454Leu) rs1566185599
NM_002834.4(PTPN11):c.1366G>A (p.Val456Met) rs397516796
NM_002834.4(PTPN11):c.137+35G>A rs727505387
NM_002834.4(PTPN11):c.137+49A>T rs761259292
NM_002834.4(PTPN11):c.1374C>A (p.His458Gln) rs727504393
NM_002834.4(PTPN11):c.1379+20C>T rs184743462
NM_002834.4(PTPN11):c.1379+273G>A
NM_002834.4(PTPN11):c.1379+6A>G rs746958309
NM_002834.4(PTPN11):c.138-181G>C
NM_002834.4(PTPN11):c.138-4T>G rs959868124
NM_002834.4(PTPN11):c.1380-14C>G rs193922657
NM_002834.4(PTPN11):c.1380-4G>T rs750640531
NM_002834.4(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.4(PTPN11):c.1381G>T (p.Ala461Ser) rs121918468
NM_002834.4(PTPN11):c.1382C>G (p.Ala461Gly) rs397509344
NM_002834.4(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.4(PTPN11):c.14+25G>C rs7972574
NM_002834.4(PTPN11):c.14+54C>A rs7973432
NM_002834.4(PTPN11):c.14+6G>T
NM_002834.4(PTPN11):c.14+8G>T rs886048965
NM_002834.4(PTPN11):c.1402A>C (p.Thr468Pro) rs397507537
NM_002834.4(PTPN11):c.1402_1403delinsGA (p.Thr468Glu) rs886039711
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1404G>A (p.Thr468=) rs587781130
NM_002834.4(PTPN11):c.1404G>C (p.Thr468=) rs587781130
NM_002834.4(PTPN11):c.1436T>C (p.Ile479Thr) rs1555270590
NM_002834.4(PTPN11):c.1448-38G>C rs186280715
NM_002834.4(PTPN11):c.1448-5C>T rs554790621
NM_002834.4(PTPN11):c.1448-8C>T rs1555270633
NM_002834.4(PTPN11):c.1449T>G (p.Gly483=) rs143238917
NM_002834.4(PTPN11):c.1460A>G (p.Asp487Gly) rs730880994
NM_002834.4(PTPN11):c.1467C>T (p.Asp489=) rs539373294
NM_002834.4(PTPN11):c.1468G>A (p.Val490Ile)
NM_002834.4(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.4(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.4(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.4(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.4(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.4(PTPN11):c.148G>A (p.Ala50Thr) rs587778636
NM_002834.4(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.4(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.4(PTPN11):c.1495T>A (p.Ser499Thr) rs1566186813
NM_002834.4(PTPN11):c.15-38C>T rs727505378
NM_002834.4(PTPN11):c.15-4delT rs1223869705
NM_002834.4(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002834.4(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.4(PTPN11):c.1504T>G (p.Ser502Ala) rs121918458
NM_002834.4(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
NM_002834.4(PTPN11):c.1506_1507delinsCC (p.Gly503Arg) rs1566186833
NM_002834.4(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.4(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.4(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546
NM_002834.4(PTPN11):c.1508G>C (p.Gly503Ala) rs397507546
NM_002834.4(PTPN11):c.1508G>T (p.Gly503Val) rs397507546
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.1516C>T (p.Gln506Ter) rs387907157
NM_002834.4(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.4(PTPN11):c.1517_1518delinsCC (p.Gln506Pro) rs397509345
NM_002834.4(PTPN11):c.1520C>A (p.Thr507Lys) rs886039463
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.4(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.4(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.4(PTPN11):c.1551G>A (p.Ala517=) rs727504377
NM_002834.4(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.4(PTPN11):c.1569A>C (p.Glu523Asp) rs1566186902
NM_002834.4(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506
NM_002834.4(PTPN11):c.1594G>A (p.Glu532Lys) rs587778634
NM_002834.4(PTPN11):c.1599+229G>A
NM_002834.4(PTPN11):c.1599+26G>A rs727505390
NM_002834.4(PTPN11):c.1599+293C>T
NM_002834.4(PTPN11):c.1599+33A>G rs727505380
NM_002834.4(PTPN11):c.1599+4C>A rs142606486
NM_002834.4(PTPN11):c.1600-95C>T rs3741983
NM_002834.4(PTPN11):c.1620C>T (p.His540=) rs587781132
NM_002834.4(PTPN11):c.1628C>T (p.Thr543Ile) rs1057520397
NM_002834.4(PTPN11):c.162C>T (p.Ile54=) rs1207829516
NM_002834.4(PTPN11):c.1642T>C (p.Ser548Pro) rs1057517907
NM_002834.4(PTPN11):c.1649C>T (p.Ala550Val) rs767712281
NM_002834.4(PTPN11):c.1650G>A (p.Ala550=) rs374896287
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.1661G>A (p.Ser554Asn) rs1555271397
NM_002834.4(PTPN11):c.166A>G (p.Ile56Val) rs397507504
NM_002834.4(PTPN11):c.1675C>T (p.Pro559Ser) rs1060502526
NM_002834.4(PTPN11):c.1676C>G (p.Pro559Arg) rs1253971623
NM_002834.4(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.4(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
NM_002834.4(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002834.4(PTPN11):c.1683G>A (p.Pro561=) rs397516798
NM_002834.4(PTPN11):c.1696A>T (p.Thr566Ser)
NM_002834.4(PTPN11):c.1697C>T (p.Thr566Met) rs150730493
NM_002834.4(PTPN11):c.1713-5T>A rs876657964
NM_002834.4(PTPN11):c.1724A>G (p.Asp575Gly) rs397516799
NM_002834.4(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.4(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.4(PTPN11):c.172A>T (p.Asn58Tyr) rs397507505
NM_002834.4(PTPN11):c.173A>G (p.Asn58Ser) rs751437780
NM_002834.4(PTPN11):c.1740T>C (p.Tyr580=) rs139188627
NM_002834.4(PTPN11):c.1746C>T (p.Asn582=) rs397516800
NM_002834.4(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.175A>G (p.Thr59Ala) rs886043790
NM_002834.4(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.4(PTPN11):c.178G>C (p.Gly60Arg) rs397507507
NM_002834.4(PTPN11):c.178G>T (p.Gly60Cys) rs397507507
NM_002834.4(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.4(PTPN11):c.179_182delinsT (p.Gly60_Asp61delinsVal) rs397507508
NM_002834.4(PTPN11):c.180_181delinsAA (p.Asp61Asn) rs1057517935
NM_002834.4(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.4(PTPN11):c.181G>C (p.Asp61His) rs397507510
NM_002834.4(PTPN11):c.181G>T (p.Asp61Tyr) rs397507510
NM_002834.4(PTPN11):c.181_183del (p.Asp61del) rs869025574
NM_002834.4(PTPN11):c.182A>C (p.Asp61Ala) rs121918461
NM_002834.4(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.4(PTPN11):c.182A>T (p.Asp61Val)
NM_002834.4(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.4(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.4(PTPN11):c.188_189delinsGC (p.Tyr63Cys) rs1057517917
NM_002834.4(PTPN11):c.205G>A (p.Glu69Lys) rs397507511
NM_002834.4(PTPN11):c.205G>C (p.Glu69Gln) rs397507511
NM_002834.4(PTPN11):c.206A>T (p.Glu69Val) rs727503380
NM_002834.4(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.4(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.4(PTPN11):c.211T>G (p.Phe71Val) rs397507512
NM_002834.4(PTPN11):c.213T>G (p.Phe71Leu) rs1555267558
NM_002834.4(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.4(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.4(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.4(PTPN11):c.215C>A (p.Ala72Asp) rs121918454
NM_002834.4(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.4(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.4(PTPN11):c.217A>C (p.Thr73Pro) rs397507513
NM_002834.4(PTPN11):c.217_218delinsCT (p.Thr73Leu) rs397516802
NM_002834.4(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.4(PTPN11):c.223G>C (p.Ala75Pro) rs1555267561
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.226G>C (p.Glu76Gln) rs121918464
NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.4(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002834.4(PTPN11):c.227A>T (p.Glu76Val) rs121918465
NM_002834.4(PTPN11):c.228G>C (p.Glu76Asp) rs397507514
NM_002834.4(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.4(PTPN11):c.235C>A (p.Gln79Lys) rs397516803
NM_002834.4(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.4(PTPN11):c.244A>G (p.Met82Val) rs397507515
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.272A>G (p.Lys91Arg) rs869312744
NM_002834.4(PTPN11):c.289G>C (p.Glu97Gln) rs397507516
NM_002834.4(PTPN11):c.295A>T (p.Lys99Ter) rs387907158
NM_002834.4(PTPN11):c.315A>T (p.Ala105=) rs397516804
NM_002834.4(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
NM_002834.4(PTPN11):c.327T>G (p.Ser109=) rs1039250039
NM_002834.4(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.4(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002834.4(PTPN11):c.330A>C (p.Glu110Asp) rs1566167244
NM_002834.4(PTPN11):c.332+17T>G rs115658366
NM_002834.4(PTPN11):c.333-223A>G
NM_002834.4(PTPN11):c.333-3T>C rs146749153
NM_002834.4(PTPN11):c.333-4T>C rs1555267812
NM_002834.4(PTPN11):c.346C>A (p.His116Asn)
NM_002834.4(PTPN11):c.348T>A (p.His116Gln) rs1482410266
NM_002834.4(PTPN11):c.349_350CT[2] (p.Ser118fs) rs398122859
NM_002834.4(PTPN11):c.369G>T (p.Glu123Asp) rs755619262
NM_002834.4(PTPN11):c.372A>G (p.Lys124=) rs1035774225
NM_002834.4(PTPN11):c.381T>C (p.Thr127=) rs757004128
NM_002834.4(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.4(PTPN11):c.409_413del (p.Val137fs) rs398122857
NM_002834.4(PTPN11):c.412C>T (p.Arg138Ter) rs267606989
NM_002834.4(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.4(PTPN11):c.417G>T (p.Glu139Asp) rs397507520
NM_002834.4(PTPN11):c.418A>T (p.Ser140Cys) rs1060502527
NM_002834.4(PTPN11):c.426C>T (p.Ser142=) rs199498784
NM_002834.4(PTPN11):c.438T>C (p.Asp146=) rs1566168661
NM_002834.4(PTPN11):c.440T>G (p.Phe147Cys) rs1179862540
NM_002834.4(PTPN11):c.455G>A (p.Arg152His) rs397507521
NM_002834.4(PTPN11):c.458_463delinsAAGAACACAGGGGAGAGCA (p.Thr153fs) rs398122858
NM_002834.4(PTPN11):c.461G>C (p.Gly154Ala) rs376027245
NM_002834.4(PTPN11):c.473G>C (p.Gly158Ala) rs1555267825
NM_002834.4(PTPN11):c.486C>T (p.Asp162=) rs397507522
NM_002834.4(PTPN11):c.487G>A (p.Gly163Ser) rs730880992
NM_002834.4(PTPN11):c.48A>G (p.Ala16=) rs372736227
NM_002834.4(PTPN11):c.505del (p.His169fs) rs1566168783
NM_002834.4(PTPN11):c.518G>C (p.Arg173Pro) rs369155025
NM_002834.4(PTPN11):c.519C>G (p.Arg173=) rs767425313
NM_002834.4(PTPN11):c.525+12G>C rs41304351
NM_002834.4(PTPN11):c.526-11T>C rs1555267925
NM_002834.4(PTPN11):c.526-17T>C rs375184329
NM_002834.4(PTPN11):c.526-33_526-31del rs142777663
NM_002834.4(PTPN11):c.526-8C>A rs184804143
NM_002834.4(PTPN11):c.537C>T (p.Tyr179=) rs141015445
NM_002834.4(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002834.4(PTPN11):c.540C>T (p.Asp180=) rs753269427
NM_002834.4(PTPN11):c.556C>T (p.Arg186Trp) rs143433437
NM_002834.4(PTPN11):c.558G>T (p.Arg186=) rs200920312
NM_002834.4(PTPN11):c.562G>A (p.Asp188Asn) rs1555267939
NM_002834.4(PTPN11):c.562G>C (p.Asp188His) rs1555267939
NM_002834.4(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381
NM_002834.4(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.4(PTPN11):c.624A>G (p.Thr208=) rs864622409
NM_002834.4(PTPN11):c.642G>A (p.Gln214=) rs876661383
NM_002834.4(PTPN11):c.643-2A>C rs398122861
NM_002834.4(PTPN11):c.643-340T>C
NM_002834.4(PTPN11):c.643-6dup rs758889732
NM_002834.4(PTPN11):c.643-7C>T rs1555268066
NM_002834.4(PTPN11):c.652A>G (p.Thr218Ala) rs768555552
NM_002834.4(PTPN11):c.652A>T (p.Thr218Ser) rs768555552
NM_002834.4(PTPN11):c.661A>G (p.Ile221Val) rs397516806
NM_002834.4(PTPN11):c.661A>T (p.Ile221Leu) rs397516806
NM_002834.4(PTPN11):c.661del (p.Arg220_Ile221insTer) rs397516807
NM_002834.4(PTPN11):c.66A>G (p.Thr22=) rs397516808
NM_002834.4(PTPN11):c.683G>T (p.Ser228Ile) rs748085966
NM_002834.4(PTPN11):c.701G>A (p.Ser234Asn) rs730881220
NM_002834.4(PTPN11):c.757-69T>C rs150087259
NM_002834.4(PTPN11):c.762_764ACA[4] (p.Gln257dup) rs397507524
NM_002834.4(PTPN11):c.766C>A (p.Gln256Lys) rs1391791847
NM_002834.4(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.4(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
NM_002834.4(PTPN11):c.781C>T (p.Leu261Phe) rs397507525
NM_002834.4(PTPN11):c.782T>A (p.Leu261His)
NM_002834.4(PTPN11):c.782T>G (p.Leu261Arg) rs765642157
NM_002834.4(PTPN11):c.785T>G (p.Leu262Arg) rs397507526
NM_002834.4(PTPN11):c.788A>G (p.Tyr263Cys)
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.794G>T (p.Arg265Leu)
NM_002834.4(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.4(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.4(PTPN11):c.806A>G (p.Gln269Arg) rs794727858
NM_002834.4(PTPN11):c.827A>G (p.Lys276Arg) rs777603059
NM_002834.4(PTPN11):c.831T>C (p.Asn277=) rs876657567
NM_002834.4(PTPN11):c.836A>C (p.Tyr279Ser) rs121918456
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.844A>G (p.Ile282Val) rs397507529
NM_002834.4(PTPN11):c.845T>C (p.Ile282Thr) rs886041495
NM_002834.4(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002834.4(PTPN11):c.853+17C>T rs746692191
NM_002834.4(PTPN11):c.853+8T>C rs886048966
NM_002834.4(PTPN11):c.853T>A (p.Phe285Ile)
NM_002834.4(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.4(PTPN11):c.854-19T>G rs751780145
NM_002834.4(PTPN11):c.854-21C>T rs41279090
NM_002834.4(PTPN11):c.854-223C>T
NM_002834.4(PTPN11):c.854-30T>C rs144391508
NM_002834.4(PTPN11):c.854-32A>C rs187389813
NM_002834.4(PTPN11):c.854T>A (p.Phe285Tyr) rs121918463
NM_002834.4(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.4(PTPN11):c.854T>G (p.Phe285Cys) rs121918463
NM_002834.4(PTPN11):c.855T>G (p.Phe285Leu) rs397516810
NM_002834.4(PTPN11):c.858T>A (p.Asp286Glu) rs397516811
NM_002834.4(PTPN11):c.868G>A (p.Val290Ile) rs1555269782
NM_002834.4(PTPN11):c.874C>T (p.Leu292=) rs930267460
NM_002834.4(PTPN11):c.879C>G (p.His293Gln) rs117730996
NM_002834.4(PTPN11):c.879C>T (p.His293=) rs117730996
NM_002834.4(PTPN11):c.893A>G (p.Asn298Ser) rs572274623
NM_002834.4(PTPN11):c.913A>G (p.Ile305Val) rs730880995
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.4(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002834.4(PTPN11):c.925A>G (p.Ile309Val) rs201787206
NM_002834.4(PTPN11):c.931A>G (p.Met311Val) rs774939392
NM_002834.4(PTPN11):c.933+11C>T rs397507532
NM_002834.4(PTPN11):c.933+25T>C rs727505386
NM_002834.4(PTPN11):c.933+4A>T rs1566181112
NM_002834.4(PTPN11):c.934-12C>T rs730880990
NM_002834.4(PTPN11):c.940T>C (p.Phe314Leu) rs968167995
NM_002834.4(PTPN11):c.951G>A (p.Lys317=) rs576405446
NM_002834.4(PTPN11):c.959A>G (p.Asn320Ser) rs1398859175
NM_002834.4(PTPN11):c.990A>C (p.Thr330=) rs369739920
NM_002834.4(PTPN11):c.996C>T (p.Gly332=) rs397507533
NM_002834.4(PTPN11):c.997T>A (p.Cys333Ser) rs730880993
PTPN11, 11-BP DEL, NT514

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