ClinVar Miner

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

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ClinVar version:
Total variants: 195
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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 0.00036
NM_012448.4(STAT5B):c.1927C>T (p.Leu643=) rs150697956 0.00024
NM_012448.4(STAT5B):c.1529C>T (p.Ala510Val) rs200200711 0.00022
NM_012448.4(STAT5B):c.678C>T (p.Arg226=) rs377043175 0.00020
NM_012448.4(STAT5B):c.1971C>T (p.Ala657=) rs141979661 0.00018
NM_012448.4(STAT5B):c.280C>T (p.Leu94Phe) rs199645527 0.00015
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.129-8T>C rs779659687 0.00010
NM_012448.4(STAT5B):c.834-7C>T rs370072353 0.00010
NM_012448.4(STAT5B):c.1058G>A (p.Arg353His) rs143171571 0.00009
NM_012448.4(STAT5B):c.2097C>T (p.Tyr699=) rs369507540 0.00009
NM_012448.4(STAT5B):c.2130-8T>A rs1045132966 0.00009
NM_012448.4(STAT5B):c.2352C>T (p.His784=) rs375173590 0.00009
NM_012448.4(STAT5B):c.1656T>C (p.Ser552=) rs758513855 0.00008
NM_012448.4(STAT5B):c.1755C>T (p.Leu585=) rs572365056 0.00007
NM_012448.4(STAT5B):c.389C>T (p.Ala130Val) rs2277619 0.00007
NM_012448.4(STAT5B):c.551-10C>T rs374282761 0.00007
NM_012448.4(STAT5B):c.551-12C>T rs368200320 0.00007
NM_012448.4(STAT5B):c.1203C>T (p.Cys401=) rs200710135 0.00006
NM_012448.4(STAT5B):c.2061C>T (p.Pro687=) rs186347987 0.00006
NM_012448.4(STAT5B):c.849C>T (p.Ala283=) rs771823136 0.00006
NM_012448.4(STAT5B):c.989+9T>C rs747877887 0.00006
NM_012448.4(STAT5B):c.550+8G>A rs776659206 0.00005
NM_012448.4(STAT5B):c.1155C>T (p.Asn385=) rs750619589 0.00004
NM_012448.4(STAT5B):c.1644C>T (p.Tyr548=) rs139437059 0.00004
NM_012448.4(STAT5B):c.474A>G (p.Thr158=) rs147066043 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.1323A>C (p.Thr441=) rs1292972704 0.00003
NM_012448.4(STAT5B):c.1474-9C>T rs1354104888 0.00003
NM_012448.4(STAT5B):c.177G>A (p.Gln59=) rs1049785980 0.00003
NM_012448.4(STAT5B):c.1950C>T (p.Asp650=) rs973333781 0.00003
NM_012448.4(STAT5B):c.2139C>T (p.Asn713=) rs201825895 0.00003
NM_012448.4(STAT5B):c.2154C>T (p.Ala718=) rs143157773 0.00003
NM_012448.4(STAT5B):c.2361G>A (p.Ser787=) rs775177987 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.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.2358A>G (p.Gln786=) rs568497349 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.1281A>T (p.Ser427=) rs1036961150 0.00001
NM_012448.4(STAT5B):c.1392G>A (p.Leu464=) rs776951968 0.00001
NM_012448.4(STAT5B):c.1437G>A (p.Thr479=) rs775941580 0.00001
NM_012448.4(STAT5B):c.1455C>T (p.Asp485=) rs777993133 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.1783T>C (p.Leu595=) rs1343126058 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.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.2130-12T>C rs1391919105 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.2271C>T (p.Phe757=) rs749104172 0.00001
NM_012448.4(STAT5B):c.375+9C>T rs536912143 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.550+11G>T rs1438750375 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.844T>C (p.Leu282=) rs923937587 0.00001
NM_012448.4(STAT5B):c.951C>T (p.Asn317=) rs372624709 0.00001
NM_012448.4(STAT5B):c.99T>C (p.Tyr33=) rs750016838 0.00001
NM_012448.4(STAT5B):c.1053T>C (p.Thr351=)
NM_012448.4(STAT5B):c.1056G>A (p.Val352=)
NM_012448.4(STAT5B):c.1071C>T (p.Gly357=) rs769445041
NM_012448.4(STAT5B):c.1089C>T (p.His363=) rs2144245566
NM_012448.4(STAT5B):c.1095C>T (p.Asn365=)
NM_012448.4(STAT5B):c.1098C>T (p.Pro366=)
NM_012448.4(STAT5B):c.1169+16C>T
NM_012448.4(STAT5B):c.1170-17C>T
NM_012448.4(STAT5B):c.1176C>T (p.Tyr392=) rs780140449
NM_012448.4(STAT5B):c.1182C>T (p.Gly394=)
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
NM_012448.4(STAT5B):c.1257+19G>A
NM_012448.4(STAT5B):c.1258-16T>C
NM_012448.4(STAT5B):c.1258-8_1258-6del
NM_012448.4(STAT5B):c.1263G>A (p.Leu421=)
NM_012448.4(STAT5B):c.128+15A>T
NM_012448.4(STAT5B):c.1284C>T (p.Asp428=)
NM_012448.4(STAT5B):c.1302G>A (p.Ser434=)
NM_012448.4(STAT5B):c.1326C>T (p.Ile442=)
NM_012448.4(STAT5B):c.1363C>T (p.Leu455=) rs982916324
NM_012448.4(STAT5B):c.1365G>T (p.Leu455=)
NM_012448.4(STAT5B):c.1380+16A>C
NM_012448.4(STAT5B):c.1381-14T>G
NM_012448.4(STAT5B):c.1381-17C>G
NM_012448.4(STAT5B):c.1386G>T (p.Leu462=) rs760116387
NM_012448.4(STAT5B):c.1407C>T (p.Ile469=)
NM_012448.4(STAT5B):c.1416C>T (p.Gly472=) rs2080169126
NM_012448.4(STAT5B):c.1419C>T (p.Ser473=) rs1360567153
NM_012448.4(STAT5B):c.1443T>C (p.Thr481=)
NM_012448.4(STAT5B):c.1449C>G (p.Leu483=)
NM_012448.4(STAT5B):c.1473+18G>T
NM_012448.4(STAT5B):c.1473+7G>C
NM_012448.4(STAT5B):c.1474-14TC[2]
NM_012448.4(STAT5B):c.1474-15C>T
NM_012448.4(STAT5B):c.1491C>G (p.Ala497=)
NM_012448.4(STAT5B):c.1515A>G (p.Pro505=)
NM_012448.4(STAT5B):c.1530G>A (p.Ala510=)
NM_012448.4(STAT5B):c.1590C>T (p.Leu530=)
NM_012448.4(STAT5B):c.1602G>A (p.Ala534=)
NM_012448.4(STAT5B):c.1638G>A (p.Glu546=)
NM_012448.4(STAT5B):c.1656T>G (p.Ser552=)
NM_012448.4(STAT5B):c.1681-15T>C
NM_012448.4(STAT5B):c.1681-4C>A
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=)
NM_012448.4(STAT5B):c.1728T>C (p.Gly576=)
NM_012448.4(STAT5B):c.1746A>G (p.Lys582=) rs2080118976
NM_012448.4(STAT5B):c.180C>G (p.Leu60=) rs200624718
NM_012448.4(STAT5B):c.1821C>G (p.Leu607=)
NM_012448.4(STAT5B):c.1851G>A (p.Leu617=)
NM_012448.4(STAT5B):c.1875C>T (p.Gly625=)
NM_012448.4(STAT5B):c.1907-15T>C
NM_012448.4(STAT5B):c.1907-4C>T rs1300626408
NM_012448.4(STAT5B):c.192G>C (p.Leu64=)
NM_012448.4(STAT5B):c.1935T>C (p.Pro645=) rs767238307
NM_012448.4(STAT5B):c.195G>A (p.Val65=)
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.2079T>G (p.Ala693=)
NM_012448.4(STAT5B):c.2085T>C (p.Ala695=)
NM_012448.4(STAT5B):c.2115G>A (p.Lys705=) rs753163911
NM_012448.4(STAT5B):c.2129+9C>T rs765594587
NM_012448.4(STAT5B):c.2130-10C>A rs2144193925
NM_012448.4(STAT5B):c.2130-13C>T
NM_012448.4(STAT5B):c.2154C>A (p.Ala718=) rs143157773
NM_012448.4(STAT5B):c.2154C>G (p.Ala718=)
NM_012448.4(STAT5B):c.2157G>A (p.Gly719=)
NM_012448.4(STAT5B):c.2160C>T (p.Gly720=)
NM_012448.4(STAT5B):c.2166C>T (p.Ser722=)
NM_012448.4(STAT5B):c.2172G>A (p.Thr724=)
NM_012448.4(STAT5B):c.2172G>C (p.Thr724=)
NM_012448.4(STAT5B):c.2208C>T (p.Pro736=)
NM_012448.4(STAT5B):c.2232A>G (p.Pro744=) rs1567652981
NM_012448.4(STAT5B):c.2238-19C>T rs2144191894
NM_012448.4(STAT5B):c.2262T>C (p.Asp754=)
NM_012448.4(STAT5B):c.2265G>A (p.Gly755=)
NM_012448.4(STAT5B):c.2310G>A (p.Glu770=)
NM_012448.4(STAT5B):c.2316C>T (p.Leu772=)
NM_012448.4(STAT5B):c.231G>A (p.Gly77=)
NM_012448.4(STAT5B):c.2334C>T (p.Asp778=)
NM_012448.4(STAT5B):c.2340G>A (p.Gln780=)
NM_012448.4(STAT5B):c.2355A>C (p.Ala785=)
NM_012448.4(STAT5B):c.270T>C (p.Tyr90=)
NM_012448.4(STAT5B):c.273C>T (p.Ala91=)
NM_012448.4(STAT5B):c.285+7G>A
NM_012448.4(STAT5B):c.286-7C>A
NM_012448.4(STAT5B):c.286-8T>A
NM_012448.4(STAT5B):c.291G>A (p.Thr97=)
NM_012448.4(STAT5B):c.315G>T (p.Leu105=) rs768466007
NM_012448.4(STAT5B):c.376-10A>C
NM_012448.4(STAT5B):c.376-10A>G
NM_012448.4(STAT5B):c.376-17C>T
NM_012448.4(STAT5B):c.376-18C>T
NM_012448.4(STAT5B):c.423C>T (p.His141=)
NM_012448.4(STAT5B):c.450G>A (p.Glu150=)
NM_012448.4(STAT5B):c.465G>A (p.Thr155=)
NM_012448.4(STAT5B):c.480T>C (p.Asn160=)
NM_012448.4(STAT5B):c.525G>A (p.Gln175=)
NM_012448.4(STAT5B):c.550+14G>A
NM_012448.4(STAT5B):c.550+20C>T
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.81C>T (p.Pro27=)
NM_012448.4(STAT5B):c.840G>A (p.Glu280=) rs868520216
NM_012448.4(STAT5B):c.906G>A (p.Gln302=) rs2144247982
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

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