ClinVar Miner

List of variants in gene STAT5B reported as likely benign for Growth hormone insensitivity with immune dysregulation 1, autosomal recessive

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 222
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012448.4(STAT5B):c.429G>C (p.Gln143His) rs148793995 0.00082
NM_012448.4(STAT5B):c.795C>T (p.Gly265=) rs766796346 0.00037
NM_012448.4(STAT5B):c.2292C>T (p.Asp764=) rs146467656 0.00034
NM_012448.4(STAT5B):c.1927C>T (p.Leu643=) rs150697956 0.00022
NM_012448.4(STAT5B):c.1529C>T (p.Ala510Val) rs200200711 0.00020
NM_012448.4(STAT5B):c.1971C>T (p.Ala657=) rs141979661 0.00018
NM_012448.4(STAT5B):c.678C>T (p.Arg226=) rs377043175 0.00018
NM_012448.4(STAT5B):c.280C>T (p.Leu94Phe) rs199645527 0.00016
NM_012448.4(STAT5B):c.389C>T (p.Ala130Val) rs2277619 0.00016
NM_012448.4(STAT5B):c.2185G>T (p.Ala729Ser) rs200042237 0.00013
NM_012448.4(STAT5B):c.1164C>T (p.Thr388=) rs144060305 0.00011
NM_012448.4(STAT5B):c.2004C>T (p.Tyr668=) rs147503881 0.00011
NM_012448.4(STAT5B):c.441G>A (p.Thr147=) rs144367484 0.00011
NM_012448.4(STAT5B):c.2352C>T (p.His784=) rs375173590 0.00010
NM_012448.4(STAT5B):c.1058G>A (p.Arg353His) rs143171571 0.00009
NM_012448.4(STAT5B):c.129-8T>C rs779659687 0.00009
NM_012448.4(STAT5B):c.2097C>T (p.Tyr699=) rs369507540 0.00009
NM_012448.4(STAT5B):c.834-7C>T rs370072353 0.00009
NM_012448.4(STAT5B):c.1656T>C (p.Ser552=) rs758513855 0.00008
NM_012448.4(STAT5B):c.2130-8T>A rs1045132966 0.00008
NM_012448.4(STAT5B):c.1203C>T (p.Cys401=) rs200710135 0.00007
NM_012448.4(STAT5B):c.1755C>T (p.Leu585=) rs572365056 0.00007
NM_012448.4(STAT5B):c.2130-13C>T rs769715895 0.00007
NM_012448.4(STAT5B):c.1365G>T (p.Leu455=) rs888681934 0.00006
NM_012448.4(STAT5B):c.551-10C>T rs374282761 0.00006
NM_012448.4(STAT5B):c.551-12C>T rs368200320 0.00006
NM_012448.4(STAT5B):c.849C>T (p.Ala283=) rs771823136 0.00006
NM_012448.4(STAT5B):c.550+8G>A rs776659206 0.00005
NM_012448.4(STAT5B):c.989+9T>C rs747877887 0.00005
NM_012448.4(STAT5B):c.1053T>C (p.Thr351=) rs774063058 0.00004
NM_012448.4(STAT5B):c.1095C>T (p.Asn365=) rs188781721 0.00004
NM_012448.4(STAT5B):c.1644C>T (p.Tyr548=) rs139437059 0.00004
NM_012448.4(STAT5B):c.2077+7A>G rs575140462 0.00004
NM_012448.4(STAT5B):c.2154C>T (p.Ala718=) rs143157773 0.00004
NM_012448.4(STAT5B):c.681+9G>A rs748173530 0.00004
NM_012448.4(STAT5B):c.750C>T (p.Asp250=) rs764709139 0.00004
NM_012448.4(STAT5B):c.1056G>A (p.Val352=) rs768467135 0.00003
NM_012448.4(STAT5B):c.1155C>T (p.Asn385=) rs750619589 0.00003
NM_012448.4(STAT5B):c.1323A>C (p.Thr441=) rs1292972704 0.00003
NM_012448.4(STAT5B):c.1455C>T (p.Asp485=) rs777993133 0.00003
NM_012448.4(STAT5B):c.1474-9C>T rs1354104888 0.00003
NM_012448.4(STAT5B):c.1728T>C (p.Gly576=) rs763332867 0.00003
NM_012448.4(STAT5B):c.1851G>A (p.Leu617=) rs1379326121 0.00003
NM_012448.4(STAT5B):c.1950C>T (p.Asp650=) rs973333781 0.00003
NM_012448.4(STAT5B):c.2115G>A (p.Lys705=) rs753163911 0.00003
NM_012448.4(STAT5B):c.2139C>T (p.Asn713=) rs201825895 0.00003
NM_012448.4(STAT5B):c.2166C>T (p.Ser722=) rs767216293 0.00003
NM_012448.4(STAT5B):c.2358A>G (p.Gln786=) rs568497349 0.00003
NM_012448.4(STAT5B):c.2361G>A (p.Ser787=) rs775177987 0.00003
NM_012448.4(STAT5B):c.474A>G (p.Thr158=) rs147066043 0.00003
NM_012448.4(STAT5B):c.550+7C>T rs771507023 0.00003
NM_012448.4(STAT5B):c.819C>T (p.Asp273=) rs986606814 0.00003
NM_012448.4(STAT5B):c.834-6G>A rs773035455 0.00003
NM_012448.4(STAT5B):c.1380+17G>C rs772835456 0.00002
NM_012448.4(STAT5B):c.1473+15C>T rs199780487 0.00002
NM_012448.4(STAT5B):c.177G>A (p.Gln59=) rs1049785980 0.00002
NM_012448.4(STAT5B):c.2077+13G>A rs756278172 0.00002
NM_012448.4(STAT5B):c.2118A>G (p.Gln706=) rs777259731 0.00002
NM_012448.4(STAT5B):c.2142A>G (p.Ala714=) rs778825869 0.00002
NM_012448.4(STAT5B):c.2148A>T (p.Ala716=) rs754980286 0.00002
NM_012448.4(STAT5B):c.291G>A (p.Thr97=) rs760931428 0.00002
NM_012448.4(STAT5B):c.375+9C>T rs536912143 0.00002
NM_012448.4(STAT5B):c.376-18C>T rs916003855 0.00002
NM_012448.4(STAT5B):c.465G>A (p.Thr155=) rs556691083 0.00002
NM_012448.4(STAT5B):c.564G>A (p.Pro188=) rs747457595 0.00002
NM_012448.4(STAT5B):c.582C>T (p.Pro194=) rs748406387 0.00002
NM_012448.4(STAT5B):c.1140G>A (p.Lys380=) rs760927580 0.00001
NM_012448.4(STAT5B):c.1169+16C>T rs769922582 0.00001
NM_012448.4(STAT5B):c.1182C>T (p.Gly394=) rs756173306 0.00001
NM_012448.4(STAT5B):c.1258-16T>C rs1178936005 0.00001
NM_012448.4(STAT5B):c.1302G>A (p.Ser434=) rs765151427 0.00001
NM_012448.4(STAT5B):c.1381-17C>G rs181612947 0.00001
NM_012448.4(STAT5B):c.1392G>A (p.Leu464=) rs776951968 0.00001
NM_012448.4(STAT5B):c.1407C>T (p.Ile469=) rs1021228558 0.00001
NM_012448.4(STAT5B):c.1419C>T (p.Ser473=) rs1360567153 0.00001
NM_012448.4(STAT5B):c.1437G>A (p.Thr479=) rs775941580 0.00001
NM_012448.4(STAT5B):c.1515A>G (p.Pro505=) rs769636293 0.00001
NM_012448.4(STAT5B):c.1530G>A (p.Ala510=) rs781030237 0.00001
NM_012448.4(STAT5B):c.1551C>T (p.Ala517=) rs373036522 0.00001
NM_012448.4(STAT5B):c.1554A>G (p.Glu518=) rs777292743 0.00001
NM_012448.4(STAT5B):c.1602G>A (p.Ala534=) rs1330061925 0.00001
NM_012448.4(STAT5B):c.1681-15T>C rs774346811 0.00001
NM_012448.4(STAT5B):c.1783T>C (p.Leu595=) rs1343126058 0.00001
NM_012448.4(STAT5B):c.180C>G (p.Leu60=) rs200624718 0.00001
NM_012448.4(STAT5B):c.1875C>T (p.Gly625=) rs761686912 0.00001
NM_012448.4(STAT5B):c.195G>A (p.Val65=) rs1280940672 0.00001
NM_012448.4(STAT5B):c.1995C>T (p.Tyr665=) rs370257486 0.00001
NM_012448.4(STAT5B):c.204G>A (p.Leu68=) rs776922169 0.00001
NM_012448.4(STAT5B):c.2061C>T (p.Pro687=) rs186347987 0.00001
NM_012448.4(STAT5B):c.2078-18A>G rs376975620 0.00001
NM_012448.4(STAT5B):c.2121G>A (p.Val707=) rs765329195 0.00001
NM_012448.4(STAT5B):c.2129+8T>G rs201769596 0.00001
NM_012448.4(STAT5B):c.2129+9C>T rs765594587 0.00001
NM_012448.4(STAT5B):c.2130-12T>C rs1391919105 0.00001
NM_012448.4(STAT5B):c.2160C>T (p.Gly720=) rs529306345 0.00001
NM_012448.4(STAT5B):c.2172G>A (p.Thr724=) rs774739413 0.00001
NM_012448.4(STAT5B):c.2237+16G>T rs771324059 0.00001
NM_012448.4(STAT5B):c.2259C>T (p.Thr753=) rs776893445 0.00001
NM_012448.4(STAT5B):c.2262T>C (p.Asp754=) rs773512310 0.00001
NM_012448.4(STAT5B):c.2265G>A (p.Gly755=) rs368735480 0.00001
NM_012448.4(STAT5B):c.2271C>T (p.Phe757=) rs749104172 0.00001
NM_012448.4(STAT5B):c.2316C>T (p.Leu772=) rs758060015 0.00001
NM_012448.4(STAT5B):c.2334C>T (p.Asp778=) rs760154055 0.00001
NM_012448.4(STAT5B):c.270T>C (p.Tyr90=) rs768410888 0.00001
NM_012448.4(STAT5B):c.273C>T (p.Ala91=) rs1169315151 0.00001
NM_012448.4(STAT5B):c.285+7G>A rs1039163906 0.00001
NM_012448.4(STAT5B):c.376-10A>C rs759326127 0.00001
NM_012448.4(STAT5B):c.376-17C>T rs1187720870 0.00001
NM_012448.4(STAT5B):c.376-4C>T rs1253644991 0.00001
NM_012448.4(STAT5B):c.376-8G>A rs763534722 0.00001
NM_012448.4(STAT5B):c.480T>C (p.Asn160=) rs2080246874 0.00001
NM_012448.4(STAT5B):c.525G>A (p.Gln175=) rs61755324 0.00001
NM_012448.4(STAT5B):c.550+11G>T rs1438750375 0.00001
NM_012448.4(STAT5B):c.550+14G>A rs768422023 0.00001
NM_012448.4(STAT5B):c.550+9C>T rs371578382 0.00001
NM_012448.4(STAT5B):c.551-20T>A rs1194587941 0.00001
NM_012448.4(STAT5B):c.579C>T (p.Ser193=) rs2080208551 0.00001
NM_012448.4(STAT5B):c.81C>T (p.Pro27=) rs1267778936 0.00001
NM_012448.4(STAT5B):c.840G>A (p.Glu280=) rs868520216 0.00001
NM_012448.4(STAT5B):c.844T>C (p.Leu282=) rs923937587 0.00001
NM_012448.4(STAT5B):c.906G>A (p.Gln302=) rs2144247982 0.00001
NM_012448.4(STAT5B):c.951C>T (p.Asn317=) rs372624709 0.00001
NM_012448.4(STAT5B):c.963G>A (p.Thr321=) rs759793357 0.00001
NM_012448.4(STAT5B):c.99T>C (p.Tyr33=) rs750016838 0.00001
NM_012448.4(STAT5B):c.1023C>T (p.Val341=)
NM_012448.4(STAT5B):c.1071C>T (p.Gly357=) rs769445041
NM_012448.4(STAT5B):c.1083C>T (p.Asn361=)
NM_012448.4(STAT5B):c.1089C>T (p.His363=) rs2144245566
NM_012448.4(STAT5B):c.1098C>T (p.Pro366=) rs2508755518
NM_012448.4(STAT5B):c.1161C>T (p.Asn387=)
NM_012448.4(STAT5B):c.1169+14T>G
NM_012448.4(STAT5B):c.1170-17C>T rs2508751220
NM_012448.4(STAT5B):c.1176C>T (p.Tyr392=) rs780140449
NM_012448.4(STAT5B):c.1189T>C (p.Leu397=) rs2144242273
NM_012448.4(STAT5B):c.1242C>A (p.Ala414=) rs2144242036
NM_012448.4(STAT5B):c.1257+12A>C rs2508750526
NM_012448.4(STAT5B):c.1257+19G>A rs776666450
NM_012448.4(STAT5B):c.1257+19del
NM_012448.4(STAT5B):c.1258-13T>G
NM_012448.4(STAT5B):c.1258-8_1258-6del rs2508750158
NM_012448.4(STAT5B):c.1260C>G (p.Ser420=)
NM_012448.4(STAT5B):c.1263G>A (p.Leu421=) rs2508750067
NM_012448.4(STAT5B):c.128+15A>T rs1326278501
NM_012448.4(STAT5B):c.128+17G>A
NM_012448.4(STAT5B):c.1281A>T (p.Ser427=) rs1036961150
NM_012448.4(STAT5B):c.1284C>T (p.Asp428=) rs2080179993
NM_012448.4(STAT5B):c.129-6C>T rs2080285302
NM_012448.4(STAT5B):c.1326C>T (p.Ile442=) rs2080179469
NM_012448.4(STAT5B):c.1363C>T (p.Leu455=) rs982916324
NM_012448.4(STAT5B):c.1380+16A>C rs2508749511
NM_012448.4(STAT5B):c.1381-14T>G rs2508745817
NM_012448.4(STAT5B):c.1386G>T (p.Leu462=) rs760116387
NM_012448.4(STAT5B):c.1416C>T (p.Gly472=) rs2080169126
NM_012448.4(STAT5B):c.1422G>A (p.Gln474=)
NM_012448.4(STAT5B):c.1443T>C (p.Thr481=) rs2144237144
NM_012448.4(STAT5B):c.1449C>G (p.Leu483=) rs2508745218
NM_012448.4(STAT5B):c.1473+18G>T rs2080168539
NM_012448.4(STAT5B):c.1473+7G>C rs2508745028
NM_012448.4(STAT5B):c.1474-14TC[2] rs1264841325
NM_012448.4(STAT5B):c.1474-15C>T rs2508732916
NM_012448.4(STAT5B):c.1491C>G (p.Ala497=) rs772239606
NM_012448.4(STAT5B):c.1590C>T (p.Leu530=) rs761303284
NM_012448.4(STAT5B):c.1596C>T (p.Phe532=)
NM_012448.4(STAT5B):c.1638G>A (p.Glu546=) rs776333900
NM_012448.4(STAT5B):c.1656T>G (p.Ser552=) rs758513855
NM_012448.4(STAT5B):c.1681-4C>A rs1337899531
NM_012448.4(STAT5B):c.1704C>T (p.Tyr568=) rs1598297430
NM_012448.4(STAT5B):c.1707T>C (p.Thr569=) rs2144219533
NM_012448.4(STAT5B):c.1716A>G (p.Gln572=) rs775637267
NM_012448.4(STAT5B):c.1741T>C (p.Leu581=)
NM_012448.4(STAT5B):c.1746A>G (p.Lys582=) rs2080118976
NM_012448.4(STAT5B):c.1821C>G (p.Leu607=) rs1065376
NM_012448.4(STAT5B):c.1833A>C (p.Pro611=)
NM_012448.4(STAT5B):c.1907-15T>C rs2508715522
NM_012448.4(STAT5B):c.1907-4C>T rs1300626408
NM_012448.4(STAT5B):c.1907-8T>C
NM_012448.4(STAT5B):c.192G>C (p.Leu64=) rs2508790970
NM_012448.4(STAT5B):c.1935T>C (p.Pro645=) rs767238307
NM_012448.4(STAT5B):c.2007G>A (p.Val669=) rs2144210790
NM_012448.4(STAT5B):c.2013T>C (p.Pro671=) rs2080096998
NM_012448.4(STAT5B):c.2078-22_2078-14del
NM_012448.4(STAT5B):c.2079T>G (p.Ala693=) rs2508699796
NM_012448.4(STAT5B):c.2085T>C (p.Ala695=) rs2508699766
NM_012448.4(STAT5B):c.2129+11A>G
NM_012448.4(STAT5B):c.2129+11A>T
NM_012448.4(STAT5B):c.2130-10C>A rs2144193925
NM_012448.4(STAT5B):c.2130-18G>C
NM_012448.4(STAT5B):c.2154C>A (p.Ala718=) rs143157773
NM_012448.4(STAT5B):c.2154C>G (p.Ala718=) rs143157773
NM_012448.4(STAT5B):c.2157G>A (p.Gly719=) rs1567653037
NM_012448.4(STAT5B):c.2172G>C (p.Thr724=) rs774739413
NM_012448.4(STAT5B):c.2208C>T (p.Pro736=) rs2508697607
NM_012448.4(STAT5B):c.2232A>G (p.Pro744=) rs1567652981
NM_012448.4(STAT5B):c.2238-19C>T rs2144191894
NM_012448.4(STAT5B):c.228G>T (p.Val76=)
NM_012448.4(STAT5B):c.2310G>A (p.Glu770=) rs2508694890
NM_012448.4(STAT5B):c.231G>A (p.Gly77=) rs1424157722
NM_012448.4(STAT5B):c.2340G>A (p.Gln780=) rs2508694678
NM_012448.4(STAT5B):c.2349G>A (p.Pro783=)
NM_012448.4(STAT5B):c.2355A>C (p.Ala785=) rs2080046047
NM_012448.4(STAT5B):c.286-7C>A rs776638959
NM_012448.4(STAT5B):c.286-8T>A rs2508781678
NM_012448.4(STAT5B):c.315G>T (p.Leu105=) rs768466007
NM_012448.4(STAT5B):c.330C>A (p.Arg110=)
NM_012448.4(STAT5B):c.376-10A>G rs759326127
NM_012448.4(STAT5B):c.376-12A>G rs990917505
NM_012448.4(STAT5B):c.423C>T (p.His141=) rs772912945
NM_012448.4(STAT5B):c.450G>A (p.Glu150=) rs953100396
NM_012448.4(STAT5B):c.550+20C>T rs775882718
NM_012448.4(STAT5B):c.550+7C>A rs771507023
NM_012448.4(STAT5B):c.551-11C>T rs1215829322
NM_012448.4(STAT5B):c.60G>A (p.Ala20=) rs927230747
NM_012448.4(STAT5B):c.627G>C (p.Val209=) rs751423677
NM_012448.4(STAT5B):c.696G>A (p.Lys232=) rs2144250710
NM_012448.4(STAT5B):c.72G>A (p.Gln24=) rs1215768537
NM_012448.4(STAT5B):c.741C>T (p.Ile247=) rs1598303809
NM_012448.4(STAT5B):c.798G>C (p.Gly266=) rs1555549153
NM_012448.4(STAT5B):c.834-9C>G rs2080198101
NM_012448.4(STAT5B):c.90G>A (p.Val30=) rs2144296728
NM_012448.4(STAT5B):c.989+10G>T rs1417741135
NM_012448.4(STAT5B):c.990-11G>T rs2508756268
NM_012448.4(STAT5B):c.990-16C>T

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.