ClinVar Miner

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

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Total variants: 202
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HGVS dbSNP gnomAD frequency
NM_012448.4(STAT5B):c.551-5T>C rs200299299 0.00188
NM_012448.4(STAT5B):c.13A>T (p.Ile5Leu) rs376041480 0.00013
NM_012448.4(STAT5B):c.2161G>A (p.Gly721Ser) rs750095303 0.00013
NM_012448.4(STAT5B):c.1666T>A (p.Ser556Thr) rs777627496 0.00010
NM_012448.4(STAT5B):c.550+5G>A rs773246323 0.00010
NM_012448.4(STAT5B):c.637G>T (p.Ala213Ser) rs377601290 0.00009
NM_012448.4(STAT5B):c.1690C>T (p.Pro564Ser) rs561888537 0.00007
NM_012448.4(STAT5B):c.1057C>T (p.Arg353Cys) rs762833594 0.00006
NM_012448.4(STAT5B):c.1591G>A (p.Val531Met) rs142918872 0.00006
NM_012448.4(STAT5B):c.2344A>C (p.Ile782Leu) rs777230664 0.00006
NM_012448.4(STAT5B):c.298C>T (p.Arg100Cys) rs199894785 0.00006
NM_012448.4(STAT5B):c.2171C>T (p.Thr724Met) rs139131471 0.00005
NM_012448.4(STAT5B):c.2353G>A (p.Ala785Thr) rs760771231 0.00005
NM_012448.4(STAT5B):c.464C>T (p.Thr155Met) rs138255473 0.00004
NM_012448.4(STAT5B):c.787G>A (p.Gly263Arg) rs759281260 0.00004
NM_012448.4(STAT5B):c.-11+7921A>G rs993237482 0.00003
NM_012448.4(STAT5B):c.2215C>T (p.His739Tyr) rs372734271 0.00003
NM_012448.4(STAT5B):c.2329A>G (p.Met777Val) rs765607800 0.00003
NM_012448.4(STAT5B):c.2359T>C (p.Ser787Pro) rs547016204 0.00003
NM_012448.4(STAT5B):c.328C>T (p.Arg110Cys) rs775502922 0.00003
NM_012448.4(STAT5B):c.550+7C>T rs771507023 0.00003
NM_012448.4(STAT5B):c.560G>C (p.Gly187Ala) rs746169589 0.00003
NM_012448.4(STAT5B):c.681+3G>A rs373321150 0.00003
NM_012448.4(STAT5B):c.1218C>A (p.His406Gln) rs945497674 0.00002
NM_012448.4(STAT5B):c.1502A>G (p.Lys501Arg) rs146678334 0.00002
NM_012448.4(STAT5B):c.173C>T (p.Thr58Ile) rs763601763 0.00002
NM_012448.4(STAT5B):c.1775+3G>A rs1171483179 0.00002
NM_012448.4(STAT5B):c.59C>T (p.Ala20Val) rs935891734 0.00002
NM_012448.4(STAT5B):c.677G>A (p.Arg226His) rs973881375 0.00002
NM_012448.4(STAT5B):c.691G>A (p.Glu231Lys) rs917567542 0.00002
NM_012448.4(STAT5B):c.1001T>C (p.Ile334Thr) rs754879860 0.00001
NM_012448.4(STAT5B):c.1009C>A (p.Gln337Lys) rs2080191165 0.00001
NM_012448.4(STAT5B):c.1072G>A (p.Gly358Arg) rs745315653 0.00001
NM_012448.4(STAT5B):c.1084G>A (p.Val362Met) rs750053820 0.00001
NM_012448.4(STAT5B):c.1100C>T (p.Pro367Leu) rs2080190307 0.00001
NM_012448.4(STAT5B):c.1133A>T (p.Gln378Leu) rs1437950343 0.00001
NM_012448.4(STAT5B):c.1166G>A (p.Arg389His) rs2080189238 0.00001
NM_012448.4(STAT5B):c.1170-3C>T rs754312665 0.00001
NM_012448.4(STAT5B):c.1247T>G (p.Phe416Cys) rs2080181180 0.00001
NM_012448.4(STAT5B):c.1380+6G>A rs760524219 0.00001
NM_012448.4(STAT5B):c.1403T>C (p.Val468Ala) rs201911697 0.00001
NM_012448.4(STAT5B):c.155A>T (p.Gln52Leu) rs139130762 0.00001
NM_012448.4(STAT5B):c.1745A>G (p.Lys582Arg) rs374070270 0.00001
NM_012448.4(STAT5B):c.178C>T (p.Leu60Phe) rs1187306164 0.00001
NM_012448.4(STAT5B):c.1942A>G (p.Thr648Ala) rs761602572 0.00001
NM_012448.4(STAT5B):c.197A>G (p.Gln66Arg) rs750520285 0.00001
NM_012448.4(STAT5B):c.2005G>A (p.Val669Met) rs1339796170 0.00001
NM_012448.4(STAT5B):c.2017C>T (p.Arg673Trp) rs773533491 0.00001
NM_012448.4(STAT5B):c.2018G>A (p.Arg673Gln) rs776285574 0.00001
NM_012448.4(STAT5B):c.2056G>A (p.Val686Ile) rs2080096648 0.00001
NM_012448.4(STAT5B):c.2065G>A (p.Glu689Lys) rs778995803 0.00001
NM_012448.4(STAT5B):c.2098G>T (p.Val700Leu) rs1567653213 0.00001
NM_012448.4(STAT5B):c.2167G>A (p.Ala723Thr) rs929910807 0.00001
NM_012448.4(STAT5B):c.2224A>G (p.Met742Val) rs769925436 0.00001
NM_012448.4(STAT5B):c.2260G>A (p.Asp754Asn) rs1238042644 0.00001
NM_012448.4(STAT5B):c.2293G>A (p.Val765Ile) rs780699949 0.00001
NM_012448.4(STAT5B):c.2303G>A (p.Arg768His) rs763716770 0.00001
NM_012448.4(STAT5B):c.2314C>T (p.Leu772Phe) rs1598291639 0.00001
NM_012448.4(STAT5B):c.2324G>A (p.Arg775Gln) rs138115420 0.00001
NM_012448.4(STAT5B):c.2348C>T (p.Pro783Leu) rs752309096 0.00001
NM_012448.4(STAT5B):c.290C>T (p.Thr97Met) rs766427008 0.00001
NM_012448.4(STAT5B):c.319C>T (p.Arg107Cys) rs1177773526 0.00001
NM_012448.4(STAT5B):c.424C>T (p.Leu142Phe) rs2144267377 0.00001
NM_012448.4(STAT5B):c.431T>A (p.Ile144Asn) rs2080247724 0.00001
NM_012448.4(STAT5B):c.435C>G (p.Asn145Lys) rs778582220 0.00001
NM_012448.4(STAT5B):c.436C>G (p.Gln146Glu) rs2080247627 0.00001
NM_012448.4(STAT5B):c.440C>T (p.Thr147Met) rs768919211 0.00001
NM_012448.4(STAT5B):c.539T>A (p.Leu180Gln) rs1031852875 0.00001
NM_012448.4(STAT5B):c.563C>T (p.Pro188Leu) rs143092033 0.00001
NM_012448.4(STAT5B):c.599G>A (p.Arg200Gln) rs779220548 0.00001
NM_012448.4(STAT5B):c.638C>G (p.Ala213Gly) rs762397922 0.00001
NM_012448.4(STAT5B):c.650G>A (p.Arg217His) rs200900246 0.00001
NM_012448.4(STAT5B):c.676C>T (p.Arg226Cys) rs777110652 0.00001
NM_012448.4(STAT5B):c.679G>A (p.Val227Met) rs761283639 0.00001
NM_012448.4(STAT5B):c.773G>A (p.Arg258Gln) rs1314726288 0.00001
NM_012448.4(STAT5B):c.799C>T (p.Pro267Ser) rs760893128 0.00001
NC_000017.10:g.(?_40353756)_(40354846_?)del
NC_000017.10:g.(?_40353756)_(40384145_?)dup
NM_012448.4(STAT5B):c.1030A>C (p.Thr344Pro) rs1598302816
NM_012448.4(STAT5B):c.1090A>G (p.Met364Val) rs2144245550
NM_012448.4(STAT5B):c.1091T>C (p.Met364Thr) rs2144245532
NM_012448.4(STAT5B):c.1095C>G (p.Asn365Lys) rs188781721
NM_012448.4(STAT5B):c.1096C>G (p.Pro366Ala)
NM_012448.4(STAT5B):c.1100C>A (p.Pro367His) rs2080190307
NM_012448.4(STAT5B):c.1100C>G (p.Pro367Arg)
NM_012448.4(STAT5B):c.1117A>G (p.Ile373Val) rs2080189921
NM_012448.4(STAT5B):c.112A>C (p.Ile38Leu) rs2508803468
NM_012448.4(STAT5B):c.1141T>C (p.Ser381Pro)
NM_012448.4(STAT5B):c.1155C>G (p.Asn385Lys) rs750619589
NM_012448.4(STAT5B):c.1156G>A (p.Glu386Lys) rs2508754967
NM_012448.4(STAT5B):c.1170-17CT[3]
NM_012448.4(STAT5B):c.1191G>C (p.Leu397Phe)
NM_012448.4(STAT5B):c.1208T>G (p.Met403Arg) rs2080181603
NM_012448.4(STAT5B):c.1248C>T (p.Phe416=) rs2508750645
NM_012448.4(STAT5B):c.1307C>G (p.Thr436Arg) rs2080179591
NM_012448.4(STAT5B):c.1307C>T (p.Thr436Ile) rs2080179591
NM_012448.4(STAT5B):c.1337C>T (p.Ser446Phe) rs1598301960
NM_012448.4(STAT5B):c.1346G>A (p.Ser449Asn) rs1598301952
NM_012448.4(STAT5B):c.1349T>G (p.Val450Gly)
NM_012448.4(STAT5B):c.1351G>A (p.Gly451Ser)
NM_012448.4(STAT5B):c.1357A>G (p.Asn453Asp)
NM_012448.4(STAT5B):c.135A>G (p.Ser45=) rs1308669737
NM_012448.4(STAT5B):c.1360G>A (p.Glu454Lys)
NM_012448.4(STAT5B):c.1382C>T (p.Thr461Ile) rs2080169504
NM_012448.4(STAT5B):c.1408G>A (p.Val470Ile) rs1555548681
NM_012448.4(STAT5B):c.140A>T (p.Asp47Val)
NM_012448.4(STAT5B):c.1424A>T (p.Asp475Val) rs2508745447
NM_012448.4(STAT5B):c.1462T>G (p.Phe488Val) rs2080168730
NM_012448.4(STAT5B):c.1464T>G (p.Phe488Leu) rs1422420302
NM_012448.4(STAT5B):c.1474-9C>A rs1354104888
NM_012448.4(STAT5B):c.1498G>A (p.Asp500Asn) rs2508732735
NM_012448.4(STAT5B):c.1552G>A (p.Glu518Lys) rs2080134439
NM_012448.4(STAT5B):c.1556T>C (p.Val519Ala)
NM_012448.4(STAT5B):c.1596C>A (p.Phe532Leu) rs1555548243
NM_012448.4(STAT5B):c.1605G>T (p.Gln535His) rs2508732196
NM_012448.4(STAT5B):c.1619A>G (p.Asn540Ser) rs2080133932
NM_012448.4(STAT5B):c.1637A>T (p.Glu546Val)
NM_012448.4(STAT5B):c.163A>G (p.Ile55Val)
NM_012448.4(STAT5B):c.1643A>G (p.Tyr548Cys)
NM_012448.4(STAT5B):c.1645A>G (p.Ser549Gly) rs2508731713
NM_012448.4(STAT5B):c.1676A>C (p.Asn559Thr) rs2144224348
NM_012448.4(STAT5B):c.1681-5A>G rs2144219612
NM_012448.4(STAT5B):c.1823T>C (p.Ile608Thr) rs2080117626
NM_012448.4(STAT5B):c.182T>C (p.Leu61Pro)
NM_012448.4(STAT5B):c.1845C>G (p.Phe615Leu) rs2080117529
NM_012448.4(STAT5B):c.1883C>G (p.Thr628Ser) rs774286856
NM_012448.4(STAT5B):c.1906C>A (p.Gln636Lys)
NM_012448.4(STAT5B):c.1915A>G (p.Met639Val)
NM_012448.4(STAT5B):c.1924A>C (p.Asn642His) rs938448224
NM_012448.4(STAT5B):c.1925A>G (p.Asn642Ser) rs2144211064
NM_012448.4(STAT5B):c.1975C>T (p.Arg659Cys) rs1188688435
NM_012448.4(STAT5B):c.1976G>A (p.Arg659His) rs2080097389
NM_012448.4(STAT5B):c.19G>A (p.Ala7Thr)
NM_012448.4(STAT5B):c.2063G>A (p.Cys688Tyr) rs2144210638
NM_012448.4(STAT5B):c.2064C>T (p.Cys688=) rs1221882000
NM_012448.4(STAT5B):c.2086G>A (p.Val696Ile)
NM_012448.4(STAT5B):c.209A>C (p.Lys70Thr)
NM_012448.4(STAT5B):c.20C>T (p.Ala7Val) rs2508803909
NM_012448.4(STAT5B):c.2129+16G>A rs753434378
NM_012448.4(STAT5B):c.2130-5T>A rs2508698098
NM_012448.4(STAT5B):c.2135T>A (p.Val712Glu)
NM_012448.4(STAT5B):c.2140G>A (p.Ala714Thr)
NM_012448.4(STAT5B):c.2147C>T (p.Ala716Val) rs2508697948
NM_012448.4(STAT5B):c.2159G>T (p.Gly720Val) rs2508697865
NM_012448.4(STAT5B):c.2176A>G (p.Met726Val) rs1598292098
NM_012448.4(STAT5B):c.2178G>A (p.Met726Ile) rs768971207
NM_012448.4(STAT5B):c.2185G>A (p.Ala729Thr) rs200042237
NM_012448.4(STAT5B):c.2195C>A (p.Pro732Gln) rs2508697654
NM_012448.4(STAT5B):c.2203T>C (p.Cys735Arg) rs2080052090
NM_012448.4(STAT5B):c.2209C>T (p.Gln737Ter) rs2508697597
NM_012448.4(STAT5B):c.2225T>C (p.Met742Thr) rs2080051897
NM_012448.4(STAT5B):c.2226G>A (p.Met742Ile) rs2508697526
NM_012448.4(STAT5B):c.2234A>T (p.Gln745Leu) rs2080051759
NM_012448.4(STAT5B):c.2242G>A (p.Asp748Asn) rs2144191866
NM_012448.4(STAT5B):c.2243A>T (p.Asp748Val) rs2508695271
NM_012448.4(STAT5B):c.2248G>C (p.Val750Leu) rs2080047086
NM_012448.4(STAT5B):c.2270_2271delinsAA (p.Phe757Ter)
NM_012448.4(STAT5B):c.2272G>A (p.Asp758Asn) rs1489641088
NM_012448.4(STAT5B):c.2275C>G (p.Leu759Val) rs2080046761
NM_012448.4(STAT5B):c.228G>C (p.Val76=) rs553370889
NM_012448.4(STAT5B):c.2297C>T (p.Ala766Val) rs2508694991
NM_012448.4(STAT5B):c.2299C>T (p.Arg767Trp) rs1177305205
NM_012448.4(STAT5B):c.2302C>T (p.Arg768Cys) rs2508694944
NM_012448.4(STAT5B):c.2333A>G (p.Asp778Gly) rs1316589368
NM_012448.4(STAT5B):c.285+4G>A
NM_012448.4(STAT5B):c.285+6_285+11del rs2508790419
NM_012448.4(STAT5B):c.285G>A (p.Gln95=) rs2508790445
NM_012448.4(STAT5B):c.286-232C>T rs2080262047
NM_012448.4(STAT5B):c.334A>T (p.Ile112Leu) rs1190893544
NM_012448.4(STAT5B):c.354G>T (p.Arg118Ser) rs2080259466
NM_012448.4(STAT5B):c.362G>T (p.Arg121Leu) rs758843144
NM_012448.4(STAT5B):c.370A>G (p.Asn124Asp)
NM_012448.4(STAT5B):c.375T>C (p.Asn125=) rs555285694
NM_012448.4(STAT5B):c.379A>T (p.Ser127Cys) rs919159376
NM_012448.4(STAT5B):c.392G>T (p.Gly131Val) rs2144267555
NM_012448.4(STAT5B):c.395G>A (p.Ser132Asn) rs1312195490
NM_012448.4(STAT5B):c.407C>A (p.Ala136Asp) rs2144267472
NM_012448.4(STAT5B):c.413C>T (p.Ser138Phe)
NM_012448.4(STAT5B):c.417G>A (p.Gln139=) rs2508776866
NM_012448.4(STAT5B):c.443T>C (p.Phe148Ser) rs2508776639
NM_012448.4(STAT5B):c.448G>A (p.Glu150Lys) rs780393081
NM_012448.4(STAT5B):c.455G>A (p.Arg152Gln)
NM_012448.4(STAT5B):c.46C>T (p.His16Tyr) rs2508803767
NM_012448.4(STAT5B):c.473C>A (p.Thr158Lys)
NM_012448.4(STAT5B):c.48T>G (p.His16Gln) rs1164527069
NM_012448.4(STAT5B):c.500A>C (p.Gln167Pro) rs753748722
NM_012448.4(STAT5B):c.530A>G (p.Gln177Arg) rs1555549674
NM_012448.4(STAT5B):c.563C>A (p.Pro188Gln) rs143092033
NM_012448.4(STAT5B):c.59C>A (p.Ala20Glu) rs935891734
NM_012448.4(STAT5B):c.644T>C (p.Leu215Ser) rs1430791171
NM_012448.4(STAT5B):c.670C>G (p.Gln224Glu) rs2508762289
NM_012448.4(STAT5B):c.68G>A (p.Gly23Asp) rs2144296821
NM_012448.4(STAT5B):c.703A>C (p.Lys235Gln) rs1206601633
NM_012448.4(STAT5B):c.721C>T (p.Arg241Trp) rs1418454797
NM_012448.4(STAT5B):c.7G>A (p.Val3Met) rs144024535
NM_012448.4(STAT5B):c.814C>G (p.Leu272Val) rs2144250166
NM_012448.4(STAT5B):c.869G>C (p.Arg290Pro) rs376599040
NM_012448.4(STAT5B):c.90G>A (p.Val30=) rs2144296728
NM_012448.4(STAT5B):c.91C>T (p.Arg31Trp) rs2080321538
NM_012448.4(STAT5B):c.925G>C (p.Val309Leu) rs2080196988
NM_012448.4(STAT5B):c.98A>G (p.Tyr33Cys) rs2508803496
NM_012448.4(STAT5B):c.992C>T (p.Thr331Met) rs753213429

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