ClinVar Miner

List of variants reported as uncertain significance for Immunodeficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 376
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=) rs41306796 0.00207
NM_138713.4(NFAT5):c.2227G>A (p.Asp743Asn) rs201856741 0.00026
NM_000606.3(C8G):c.541T>C (p.Tyr181His) rs138632480 0.00025
NM_138713.4(NFAT5):c.2204A>T (p.Gln735Leu) rs189877263 0.00023
NM_138713.4(NFAT5):c.4336G>A (p.Gly1446Ser) rs145862239 0.00021
NM_138713.4(NFAT5):c.2332A>G (p.Asn778Asp) rs202102702 0.00016
NM_138713.4(NFAT5):c.1819C>T (p.Pro607Ser) rs150038450 0.00014
NM_138713.4(NFAT5):c.3665C>T (p.Pro1222Leu) rs755263731 0.00011
NM_138713.4(NFAT5):c.3917A>G (p.Asn1306Ser) rs190491342 0.00010
NM_138713.4(NFAT5):c.1832T>A (p.Met611Lys) rs374998786 0.00009
NM_138713.4(NFAT5):c.2093C>A (p.Thr698Asn) rs376624071 0.00008
NM_138713.4(NFAT5):c.3989A>G (p.Gln1330Arg) rs778687177 0.00008
NM_138713.4(NFAT5):c.4006A>G (p.Met1336Val) rs150642075 0.00008
NM_138713.4(NFAT5):c.2191A>G (p.Thr731Ala) rs755321383 0.00007
NM_138713.4(NFAT5):c.3424G>A (p.Ala1142Thr) rs372688181 0.00007
NM_138713.4(NFAT5):c.3721A>G (p.Met1241Val) rs149983493 0.00007
NM_138713.4(NFAT5):c.424T>A (p.Leu142Ile) rs1005932189 0.00007
NM_138713.4(NFAT5):c.1928C>T (p.Thr643Ile) rs559423977 0.00006
NM_138713.4(NFAT5):c.2678C>A (p.Thr893Lys) rs149255851 0.00006
NM_138713.4(NFAT5):c.3104A>G (p.Asn1035Ser) rs779806445 0.00006
NM_138713.4(NFAT5):c.3514A>G (p.Thr1172Ala) rs546177959 0.00006
NM_138713.4(NFAT5):c.4085C>T (p.Ser1362Leu) rs376194958 0.00006
NM_138713.4(NFAT5):c.4573A>G (p.Thr1525Ala) rs150303079 0.00006
NM_138713.4(NFAT5):c.2105C>T (p.Ser702Leu) rs369860927 0.00005
NM_138713.4(NFAT5):c.2783A>G (p.Gln928Arg) rs148167814 0.00005
NM_138713.4(NFAT5):c.3466A>G (p.Thr1156Ala) rs750787383 0.00005
NM_032040.5(CCDC8):c.818C>T (p.Ser273Phe) rs145652080 0.00004
NM_138713.4(NFAT5):c.1193T>G (p.Leu398Arg) rs1315353608 0.00004
NM_138713.4(NFAT5):c.1777A>G (p.Met593Val) rs182069051 0.00004
NM_138713.4(NFAT5):c.2287C>A (p.Pro763Thr) rs372430182 0.00004
NM_138713.4(NFAT5):c.2429G>A (p.Ser810Asn) rs774143282 0.00004
NM_138713.4(NFAT5):c.2842C>T (p.Pro948Ser) rs141926483 0.00004
NM_138713.4(NFAT5):c.2907G>C (p.Gln969His) rs760690970 0.00004
NM_138713.4(NFAT5):c.2981C>T (p.Thr994Ile) rs779718608 0.00004
NM_138713.4(NFAT5):c.3673G>A (p.Gly1225Ser) rs377262455 0.00004
NM_138713.4(NFAT5):c.4522C>T (p.Leu1508Phe) rs376433264 0.00004
NM_138713.4(NFAT5):c.283A>G (p.Met95Val) rs369918817 0.00003
NM_138713.4(NFAT5):c.3298C>G (p.Gln1100Glu) rs753594508 0.00003
NM_138713.4(NFAT5):c.409G>A (p.Val137Ile) rs1379586467 0.00003
NM_138713.4(NFAT5):c.4295C>T (p.Ser1432Leu) rs201563281 0.00003
NM_138713.4(NFAT5):c.1165G>A (p.Gly389Ser) rs759928002 0.00002
NM_138713.4(NFAT5):c.1283G>A (p.Arg428His) rs141565383 0.00002
NM_138713.4(NFAT5):c.1681C>G (p.Pro561Ala) rs754792616 0.00002
NM_138713.4(NFAT5):c.2101A>G (p.Ile701Val) rs768765670 0.00002
NM_138713.4(NFAT5):c.2258C>T (p.Thr753Ile) rs377471401 0.00002
NM_138713.4(NFAT5):c.3158A>G (p.Asn1053Ser) rs200419455 0.00002
NM_138713.4(NFAT5):c.3769G>A (p.Val1257Ile) rs1378468301 0.00002
NM_138713.4(NFAT5):c.3892G>T (p.Ala1298Ser) rs771597579 0.00002
NM_138713.4(NFAT5):c.3946A>G (p.Met1316Val) rs534769846 0.00002
NM_138713.4(NFAT5):c.4498G>A (p.Glu1500Lys) rs758828053 0.00002
NM_138713.4(NFAT5):c.610A>G (p.Met204Val) rs752063700 0.00002
NM_138713.4(NFAT5):c.1028T>C (p.Val343Ala) rs192156074 0.00001
NM_138713.4(NFAT5):c.1207G>A (p.Val403Ile) rs765182239 0.00001
NM_138713.4(NFAT5):c.1279A>G (p.Thr427Ala) rs756830190 0.00001
NM_138713.4(NFAT5):c.1490A>G (p.Gln497Arg) rs1321905353 0.00001
NM_138713.4(NFAT5):c.1499T>C (p.Val500Ala) rs747215016 0.00001
NM_138713.4(NFAT5):c.1691-2A>T rs374351352 0.00001
NM_138713.4(NFAT5):c.1745G>A (p.Arg582Lys) rs1234391444 0.00001
NM_138713.4(NFAT5):c.1909T>G (p.Ser637Ala) rs760675028 0.00001
NM_138713.4(NFAT5):c.1945A>G (p.Thr649Ala) rs2037554143 0.00001
NM_138713.4(NFAT5):c.2030A>G (p.Asn677Ser) rs1398457637 0.00001
NM_138713.4(NFAT5):c.2135C>T (p.Ala712Val) rs1441808759 0.00001
NM_138713.4(NFAT5):c.2253A>G (p.Gln751=) rs2037570552 0.00001
NM_138713.4(NFAT5):c.2380C>G (p.Gln794Glu) rs757333746 0.00001
NM_138713.4(NFAT5):c.2542A>G (p.Ile848Val) rs1442970520 0.00001
NM_138713.4(NFAT5):c.2624C>A (p.Pro875Gln) rs746671507 0.00001
NM_138713.4(NFAT5):c.2672A>C (p.Glu891Ala) rs759052772 0.00001
NM_138713.4(NFAT5):c.2690A>G (p.Gln897Arg) rs762105144 0.00001
NM_138713.4(NFAT5):c.2804C>T (p.Pro935Leu) rs908260075 0.00001
NM_138713.4(NFAT5):c.2884A>G (p.Thr962Ala) rs932232039 0.00001
NM_138713.4(NFAT5):c.2929C>T (p.Pro977Ser) rs369476982 0.00001
NM_138713.4(NFAT5):c.2981C>A (p.Thr994Asn) rs779718608 0.00001
NM_138713.4(NFAT5):c.3346C>T (p.Pro1116Ser) rs1346250715 0.00001
NM_138713.4(NFAT5):c.3349A>G (p.Ile1117Val) rs746229892 0.00001
NM_138713.4(NFAT5):c.3352G>A (p.Val1118Ile) rs2037622928 0.00001
NM_138713.4(NFAT5):c.3382G>A (p.Glu1128Lys) rs1246017789 0.00001
NM_138713.4(NFAT5):c.346A>G (p.Thr116Ala) rs1042925684 0.00001
NM_138713.4(NFAT5):c.3497A>G (p.Asn1166Ser) rs776590259 0.00001
NM_138713.4(NFAT5):c.3574T>C (p.Ser1192Pro) rs937802712 0.00001
NM_138713.4(NFAT5):c.3701G>A (p.Gly1234Asp) rs2037640263 0.00001
NM_138713.4(NFAT5):c.372G>C (p.Glu124Asp) rs200580359 0.00001
NM_138713.4(NFAT5):c.4051G>A (p.Val1351Ile) rs2037660998 0.00001
NM_138713.4(NFAT5):c.4342A>G (p.Met1448Val) rs760790791 0.00001
NM_138713.4(NFAT5):c.4388G>C (p.Gly1463Ala) rs151172191 0.00001
NM_138713.4(NFAT5):c.4471A>G (p.Ile1491Val) rs753321494 0.00001
NM_138713.4(NFAT5):c.4513G>A (p.Val1505Met) rs140045591 0.00001
NM_138713.4(NFAT5):c.4574C>T (p.Thr1525Ile) rs772080402 0.00001
NM_138713.4(NFAT5):c.461C>T (p.Pro154Leu) rs1029531992 0.00001
NM_138713.4(NFAT5):c.4622A>G (p.Gln1541Arg) rs193135386 0.00001
NM_138713.4(NFAT5):c.4643C>G (p.Ser1548Cys) rs1321523625 0.00001
NM_138713.4(NFAT5):c.484A>G (p.Ile162Val) rs781587305 0.00001
NM_138713.4(NFAT5):c.542G>A (p.Gly181Glu) rs773069993 0.00001
NM_138713.4(NFAT5):c.605G>A (p.Ser202Asn) rs752137755 0.00001
NM_138713.4(NFAT5):c.692A>G (p.Lys231Arg) rs1170182479 0.00001
NM_138713.4(NFAT5):c.779C>T (p.Thr260Met) rs928159727 0.00001
NM_138713.4(NFAT5):c.813-5C>G rs773730369 0.00001
NC_000016.9:g.(?_69680960)_(72146396_?)dup
NC_000016.9:g.(?_69711086)_(69729274_?)dup
NC_000016.9:g.(?_69728151)_(69731549_?)del
NM_000606.3(C8G):c.93_99dup (p.Ser34fs) rs758635843
NM_018990.4(SASH3):c.442+3G>A rs2124081404
NM_024580.6(EFL1):c.2041A>G (p.Ile681Val) rs1595945072
NM_138713.4(NFAT5):c.1005+1G>A rs2151633048
NM_138713.4(NFAT5):c.1005+3A>G rs2151633054
NM_138713.4(NFAT5):c.1019A>G (p.Asn340Ser)
NM_138713.4(NFAT5):c.1027G>A (p.Val343Ile)
NM_138713.4(NFAT5):c.1052A>G (p.Asn351Ser)
NM_138713.4(NFAT5):c.1093T>C (p.Cys365Arg)
NM_138713.4(NFAT5):c.1109G>A (p.Arg370Gln)
NM_138713.4(NFAT5):c.1147ACT[1] (p.Thr384del) rs2151636834
NM_138713.4(NFAT5):c.1162G>A (p.Val388Ile)
NM_138713.4(NFAT5):c.1197-3T>C rs1597488810
NM_138713.4(NFAT5):c.1197G>A (p.Ala399=)
NM_138713.4(NFAT5):c.1197G>C (p.Ala399=)
NM_138713.4(NFAT5):c.1198G>A (p.Val400Met)
NM_138713.4(NFAT5):c.1249A>G (p.Ile417Val)
NM_138713.4(NFAT5):c.1301G>A (p.Arg434Gln)
NM_138713.4(NFAT5):c.1360A>G (p.Ile454Val)
NM_138713.4(NFAT5):c.1393A>G (p.Ile465Val)
NM_138713.4(NFAT5):c.1433A>C (p.Glu478Ala)
NM_138713.4(NFAT5):c.1435G>A (p.Glu479Lys)
NM_138713.4(NFAT5):c.1439A>T (p.Glu480Val)
NM_138713.4(NFAT5):c.1450A>G (p.Ile484Val)
NM_138713.4(NFAT5):c.1504+8C>G rs771199145
NM_138713.4(NFAT5):c.1511A>G (p.Asn504Ser) rs751885798
NM_138713.4(NFAT5):c.1511A>T (p.Asn504Ile) rs751885798
NM_138713.4(NFAT5):c.1540A>C (p.Met514Leu)
NM_138713.4(NFAT5):c.1557+5A>T rs2036573840
NM_138713.4(NFAT5):c.1576G>A (p.Val526Ile)
NM_138713.4(NFAT5):c.1595A>C (p.Gln532Pro) rs758346739
NM_138713.4(NFAT5):c.1595A>T (p.Gln532Leu) rs758346739
NM_138713.4(NFAT5):c.1612G>A (p.Val538Met)
NM_138713.4(NFAT5):c.1655A>G (p.His552Arg)
NM_138713.4(NFAT5):c.1691-3T>C rs1567606090
NM_138713.4(NFAT5):c.1706T>C (p.Leu569Ser) rs2151702872
NM_138713.4(NFAT5):c.1717G>T (p.Val573Leu)
NM_138713.4(NFAT5):c.1748C>T (p.Pro583Leu)
NM_138713.4(NFAT5):c.1765G>T (p.Ala589Ser) rs1597550230
NM_138713.4(NFAT5):c.1768A>G (p.Met590Val)
NM_138713.4(NFAT5):c.1771A>G (p.Lys591Glu)
NM_138713.4(NFAT5):c.1774+7A>G rs2151703042
NM_138713.4(NFAT5):c.1775-8A>G
NM_138713.4(NFAT5):c.1793G>A (p.Cys598Tyr)
NM_138713.4(NFAT5):c.1798T>A (p.Leu600Ile)
NM_138713.4(NFAT5):c.1877C>T (p.Thr626Ile)
NM_138713.4(NFAT5):c.1895C>T (p.Ala632Val)
NM_138713.4(NFAT5):c.1902A>C (p.Lys634Asn) rs1292308107
NM_138713.4(NFAT5):c.1904G>C (p.Arg635Thr) rs2151716663
NM_138713.4(NFAT5):c.1904G>T (p.Arg635Ile)
NM_138713.4(NFAT5):c.1912A>G (p.Thr638Ala)
NM_138713.4(NFAT5):c.1912A>T (p.Thr638Ser) rs753691324
NM_138713.4(NFAT5):c.1940G>A (p.Gly647Glu)
NM_138713.4(NFAT5):c.1966A>G (p.Ile656Val)
NM_138713.4(NFAT5):c.1982G>A (p.Gly661Glu)
NM_138713.4(NFAT5):c.1987G>A (p.Gly663Ser) rs2151718056
NM_138713.4(NFAT5):c.1996T>C (p.Ser666Pro)
NM_138713.4(NFAT5):c.2000C>T (p.Ser667Leu)
NM_138713.4(NFAT5):c.2023T>G (p.Ser675Ala) rs1597569091
NM_138713.4(NFAT5):c.2040G>T (p.Gln680His)
NM_138713.4(NFAT5):c.2042A>G (p.Gln681Arg) rs2151718207
NM_138713.4(NFAT5):c.2046G>C (p.Gln682His)
NM_138713.4(NFAT5):c.2086A>G (p.Ile696Val)
NM_138713.4(NFAT5):c.2113G>C (p.Gly705Arg) rs151223997
NM_138713.4(NFAT5):c.2125G>A (p.Ala709Thr)
NM_138713.4(NFAT5):c.2149C>T (p.Pro717Ser) rs2151718556
NM_138713.4(NFAT5):c.2157C>A (p.Ser719Arg) rs531151605
NM_138713.4(NFAT5):c.2179A>G (p.Thr727Ala)
NM_138713.4(NFAT5):c.2207C>G (p.Ser736Cys)
NM_138713.4(NFAT5):c.2216T>G (p.Ile739Arg)
NM_138713.4(NFAT5):c.2222A>G (p.Gln741Arg) rs2037568833
NM_138713.4(NFAT5):c.2224T>A (p.Ser742Thr)
NM_138713.4(NFAT5):c.2242A>G (p.Asn748Asp)
NM_138713.4(NFAT5):c.2260G>A (p.Glu754Lys)
NM_138713.4(NFAT5):c.2268ACA[2] (p.Gln761del) rs768126058
NM_138713.4(NFAT5):c.2285C>T (p.Ser762Leu) rs750941750
NM_138713.4(NFAT5):c.2320C>A (p.Gln774Lys) rs2151719034
NM_138713.4(NFAT5):c.2341C>G (p.Pro781Ala) rs535022014
NM_138713.4(NFAT5):c.2348C>T (p.Pro783Leu)
NM_138713.4(NFAT5):c.2356G>A (p.Val786Met)
NM_138713.4(NFAT5):c.2360G>A (p.Ser787Asn)
NM_138713.4(NFAT5):c.2361T>G (p.Ser787Arg) rs2037574787
NM_138713.4(NFAT5):c.2380C>A (p.Gln794Lys) rs757333746
NM_138713.4(NFAT5):c.2435G>C (p.Ser812Thr) rs903831612
NM_138713.4(NFAT5):c.2438T>C (p.Val813Ala)
NM_138713.4(NFAT5):c.2461G>C (p.Glu821Gln)
NM_138713.4(NFAT5):c.2501C>T (p.Pro834Leu) rs2151719367
NM_138713.4(NFAT5):c.2504A>T (p.Asp835Val) rs1335921240
NM_138713.4(NFAT5):c.2525A>G (p.Glu842Gly)
NM_138713.4(NFAT5):c.2530C>T (p.Leu844Phe)
NM_138713.4(NFAT5):c.2533A>C (p.Ser845Arg) rs2151719456
NM_138713.4(NFAT5):c.2540A>C (p.Asp847Ala) rs2151719465
NM_138713.4(NFAT5):c.2559T>A (p.Ser853Arg)
NM_138713.4(NFAT5):c.2585G>T (p.Gly862Val) rs768808566
NM_138713.4(NFAT5):c.2589G>A (p.Met863Ile)
NM_138713.4(NFAT5):c.2666A>G (p.Gln889Arg)
NM_138713.4(NFAT5):c.2678C>T (p.Thr893Met) rs149255851
NM_138713.4(NFAT5):c.2684C>A (p.Ser895Tyr) rs764512084
NM_138713.4(NFAT5):c.2694GCA[3] (p.Gln904_Gln906del) rs369235958
NM_138713.4(NFAT5):c.2694GCA[4] (p.Gln905_Gln906del)
NM_138713.4(NFAT5):c.2694GCA[7] (p.Gln906dup) rs369235958
NM_138713.4(NFAT5):c.2694GCA[8] (p.Gln906_Val907insGlnGln)
NM_138713.4(NFAT5):c.2712_2714dup (p.Gln906_Val907insGln)
NM_138713.4(NFAT5):c.2727A>C (p.Glu909Asp) rs2037590015
NM_138713.4(NFAT5):c.2731T>G (p.Ser911Ala) rs767567326
NM_138713.4(NFAT5):c.2740A>G (p.Met914Val)
NM_138713.4(NFAT5):c.2742G>A (p.Met914Ile) rs752600679
NM_138713.4(NFAT5):c.2746A>G (p.Met916Val) rs2151719975
NM_138713.4(NFAT5):c.2752A>T (p.Met918Leu)
NM_138713.4(NFAT5):c.2779G>A (p.Ala927Thr)
NM_138713.4(NFAT5):c.2791T>A (p.Ser931Thr)
NM_138713.4(NFAT5):c.2791T>G (p.Ser931Ala) rs1304385326
NM_138713.4(NFAT5):c.2797T>A (p.Leu933Ile)
NM_138713.4(NFAT5):c.2806T>G (p.Ser936Ala) rs746725926
NM_138713.4(NFAT5):c.2810C>T (p.Thr937Ile)
NM_138713.4(NFAT5):c.2812G>A (p.Ala938Thr)
NM_138713.4(NFAT5):c.2834A>G (p.Gln945Arg)
NM_138713.4(NFAT5):c.2866A>G (p.Met956Val)
NM_138713.4(NFAT5):c.2867T>C (p.Met956Thr)
NM_138713.4(NFAT5):c.2882C>G (p.Ser961Cys)
NM_138713.4(NFAT5):c.289G>A (p.Gly97Ser)
NM_138713.4(NFAT5):c.2926C>T (p.Pro976Ser) rs2151720335
NM_138713.4(NFAT5):c.2926CCT[1] (p.Pro977del)
NM_138713.4(NFAT5):c.2938T>C (p.Ser980Pro)
NM_138713.4(NFAT5):c.2942G>T (p.Gly981Val)
NM_138713.4(NFAT5):c.2954C>G (p.Ser985Cys)
NM_138713.4(NFAT5):c.2983C>T (p.Pro995Ser) rs112392728
NM_138713.4(NFAT5):c.2995A>G (p.Met999Val)
NM_138713.4(NFAT5):c.3013T>A (p.Ser1005Thr) rs2151720583
NM_138713.4(NFAT5):c.3023G>A (p.Gly1008Glu)
NM_138713.4(NFAT5):c.3035G>A (p.Gly1012Glu) rs2151720658
NM_138713.4(NFAT5):c.3042A>C (p.Gln1014His) rs759482158
NM_138713.4(NFAT5):c.3046_3048del (p.Lys1016del) rs776838710
NM_138713.4(NFAT5):c.3048A>T (p.Lys1016Asn) rs2037605270
NM_138713.4(NFAT5):c.3055C>G (p.Gln1019Glu)
NM_138713.4(NFAT5):c.3058A>G (p.Asn1020Asp)
NM_138713.4(NFAT5):c.3076A>G (p.Met1026Val)
NM_138713.4(NFAT5):c.3085A>C (p.Met1029Leu) rs755846884
NM_138713.4(NFAT5):c.3090A>G (p.Gln1030=) rs2037607628
NM_138713.4(NFAT5):c.3092A>T (p.His1031Leu)
NM_138713.4(NFAT5):c.3097G>A (p.Gly1033Arg)
NM_138713.4(NFAT5):c.3101A>G (p.Asp1034Gly) rs1302095085
NM_138713.4(NFAT5):c.3106C>G (p.Gln1036Glu)
NM_138713.4(NFAT5):c.3108A>T (p.Gln1036His) rs2151720870
NM_138713.4(NFAT5):c.3121C>T (p.Leu1041Phe)
NM_138713.4(NFAT5):c.3142A>T (p.Met1048Leu)
NM_138713.4(NFAT5):c.3155A>G (p.Gln1052Arg) rs1555534626
NM_138713.4(NFAT5):c.3162T>G (p.Ser1054Arg)
NM_138713.4(NFAT5):c.3176A>G (p.Gln1059Arg)
NM_138713.4(NFAT5):c.3199G>A (p.Gly1067Arg)
NM_138713.4(NFAT5):c.3200G>A (p.Gly1067Glu) rs750268591
NM_138713.4(NFAT5):c.3221A>G (p.Gln1074Arg)
NM_138713.4(NFAT5):c.3222A>C (p.Gln1074His) rs754574529
NM_138713.4(NFAT5):c.3243G>C (p.Gln1081His) rs758918416
NM_138713.4(NFAT5):c.3253T>G (p.Ser1085Ala) rs2151721303
NM_138713.4(NFAT5):c.3257A>G (p.Gln1086Arg) rs2037616903
NM_138713.4(NFAT5):c.3259G>T (p.Ala1087Ser) rs1303798077
NM_138713.4(NFAT5):c.325A>G (p.Thr109Ala)
NM_138713.4(NFAT5):c.326C>T (p.Thr109Ile) rs2151621305
NM_138713.4(NFAT5):c.3278A>G (p.Gln1093Arg)
NM_138713.4(NFAT5):c.3292G>A (p.Asp1098Asn)
NM_138713.4(NFAT5):c.3302A>G (p.Asn1101Ser)
NM_138713.4(NFAT5):c.3326C>T (p.Ser1109Phe)
NM_138713.4(NFAT5):c.3341C>T (p.Pro1114Leu)
NM_138713.4(NFAT5):c.3400A>G (p.Met1134Val)
NM_138713.4(NFAT5):c.3402G>A (p.Met1134Ile)
NM_138713.4(NFAT5):c.341C>T (p.Ser114Leu)
NM_138713.4(NFAT5):c.3433C>A (p.Gln1145Lys)
NM_138713.4(NFAT5):c.3436G>A (p.Gly1146Ser) rs2151721835
NM_138713.4(NFAT5):c.3460C>G (p.Gln1154Glu)
NM_138713.4(NFAT5):c.3475T>C (p.Phe1159Leu)
NM_138713.4(NFAT5):c.3478C>A (p.Leu1160Ile) rs749509432
NM_138713.4(NFAT5):c.3485A>T (p.Gln1162Leu)
NM_138713.4(NFAT5):c.3495G>A (p.Met1165Ile) rs770795532
NM_138713.4(NFAT5):c.349G>A (p.Asp117Asn)
NM_138713.4(NFAT5):c.3524A>C (p.Gln1175Pro) rs1200373139
NM_138713.4(NFAT5):c.3529G>C (p.Ala1177Pro) rs2037631916
NM_138713.4(NFAT5):c.3548A>G (p.Asn1183Ser) rs2151722142
NM_138713.4(NFAT5):c.3557C>T (p.Ser1186Phe)
NM_138713.4(NFAT5):c.3586C>A (p.Gln1196Lys)
NM_138713.4(NFAT5):c.3587A>G (p.Gln1196Arg)
NM_138713.4(NFAT5):c.3598T>C (p.Phe1200Leu) rs2151722285
NM_138713.4(NFAT5):c.3609A>G (p.Gln1203=)
NM_138713.4(NFAT5):c.3611C>T (p.Ala1204Val)
NM_138713.4(NFAT5):c.3613C>G (p.Pro1205Ala)
NM_138713.4(NFAT5):c.3616A>G (p.Ile1206Val)
NM_138713.4(NFAT5):c.361A>T (p.Met121Leu) rs747303047
NM_138713.4(NFAT5):c.3630G>C (p.Gln1210His) rs1555534920
NM_138713.4(NFAT5):c.3652C>T (p.Gln1218Ter) rs1597574388
NM_138713.4(NFAT5):c.3662C>A (p.Pro1221His) rs1003861783
NM_138713.4(NFAT5):c.3694G>A (p.Ala1232Thr)
NM_138713.4(NFAT5):c.3703T>A (p.Ser1235Thr)
NM_138713.4(NFAT5):c.3709C>T (p.Pro1237Ser)
NM_138713.4(NFAT5):c.3722T>C (p.Met1241Thr)
NM_138713.4(NFAT5):c.3725C>T (p.Pro1242Leu)
NM_138713.4(NFAT5):c.3766A>G (p.Ile1256Val)
NM_138713.4(NFAT5):c.3773C>T (p.Ala1258Val)
NM_138713.4(NFAT5):c.3804GCA[3] (p.Gln1283_Gln1284del)
NM_138713.4(NFAT5):c.3804GCA[7] (p.Gln1283_Gln1284dup) rs750951612
NM_138713.4(NFAT5):c.3809A>G (p.Gln1270Arg)
NM_138713.4(NFAT5):c.3810GCAGCAGCAACA[1] (p.Gln1277_Gln1284del) rs747731827
NM_138713.4(NFAT5):c.3810GCAGCAGCAACA[2] (p.Gln1281_Gln1284del) rs747731827
NM_138713.4(NFAT5):c.3819_3839del (p.Gln1278_Gln1284del)
NM_138713.4(NFAT5):c.3824A>G (p.Gln1275Arg)
NM_138713.4(NFAT5):c.3837_3848del (p.Gln1281_Gln1284del) rs749246961
NM_138713.4(NFAT5):c.3843ACA[4] (p.Gln1284_Ser1285insGln)
NM_138713.4(NFAT5):c.3889A>G (p.Met1297Val)
NM_138713.4(NFAT5):c.3893C>T (p.Ala1298Val) rs2037653444
NM_138713.4(NFAT5):c.3924A>G (p.Ile1308Met) rs2037654799
NM_138713.4(NFAT5):c.3931C>G (p.Pro1311Ala) rs370045730
NM_138713.4(NFAT5):c.4027A>G (p.Met1343Val)
NM_138713.4(NFAT5):c.4040G>C (p.Ser1347Thr) rs748392099
NM_138713.4(NFAT5):c.4063C>A (p.Gln1355Lys)
NM_138713.4(NFAT5):c.4070C>T (p.Pro1357Leu)
NM_138713.4(NFAT5):c.4078A>C (p.Thr1360Pro)
NM_138713.4(NFAT5):c.4084T>G (p.Ser1362Ala) rs2151723697
NM_138713.4(NFAT5):c.4089A>C (p.Glu1363Asp) rs754921543
NM_138713.4(NFAT5):c.4136T>C (p.Val1379Ala) rs2151723912
NM_138713.4(NFAT5):c.4159G>A (p.Glu1387Lys) rs2151723972
NM_138713.4(NFAT5):c.4160A>G (p.Glu1387Gly)
NM_138713.4(NFAT5):c.4206G>T (p.Leu1402Phe)
NM_138713.4(NFAT5):c.4213A>G (p.Ser1405Gly)
NM_138713.4(NFAT5):c.4216A>G (p.Ile1406Val) rs2037669112
NM_138713.4(NFAT5):c.4228G>C (p.Asp1410His)
NM_138713.4(NFAT5):c.4232T>C (p.Met1411Thr)
NM_138713.4(NFAT5):c.4237C>G (p.Gln1413Glu)
NM_138713.4(NFAT5):c.4241CTC[1] (p.Pro1415del)
NM_138713.4(NFAT5):c.4244C>G (p.Pro1415Arg) rs1225190008
NM_138713.4(NFAT5):c.4246C>T (p.Leu1416Phe) rs1202614548
NM_138713.4(NFAT5):c.428C>T (p.Thr143Ile)
NM_138713.4(NFAT5):c.4298C>T (p.Pro1433Leu)
NM_138713.4(NFAT5):c.4303C>T (p.Pro1435Ser) rs2037673824
NM_138713.4(NFAT5):c.4306C>G (p.Gln1436Glu) rs1567617414
NM_138713.4(NFAT5):c.431G>A (p.Ser144Asn)
NM_138713.4(NFAT5):c.4330G>A (p.Ala1444Thr) rs1227168530
NM_138713.4(NFAT5):c.4333G>A (p.Gly1445Arg)
NM_138713.4(NFAT5):c.4364C>T (p.Pro1455Leu) rs2151724480
NM_138713.4(NFAT5):c.4369T>C (p.Ser1457Pro) rs1021178399
NM_138713.4(NFAT5):c.437C>T (p.Thr146Ile)
NM_138713.4(NFAT5):c.4392G>A (p.Met1464Ile) rs188500009
NM_138713.4(NFAT5):c.4399T>A (p.Phe1467Ile) rs1597576910
NM_138713.4(NFAT5):c.4423C>G (p.Gln1475Glu)
NM_138713.4(NFAT5):c.4467G>A (p.Met1489Ile) rs2037718619
NM_138713.4(NFAT5):c.4474A>C (p.Ser1492Arg)
NM_138713.4(NFAT5):c.4507C>A (p.Pro1503Thr)
NM_138713.4(NFAT5):c.4523T>G (p.Leu1508Arg) rs1249418195
NM_138713.4(NFAT5):c.4545G>T (p.Glu1515Asp)
NM_138713.4(NFAT5):c.4552C>T (p.Pro1518Ser) rs2037723323
NM_138713.4(NFAT5):c.457A>G (p.Thr153Ala)
NM_138713.4(NFAT5):c.4585A>T (p.Ile1529Phe) rs2151726578
NM_138713.4(NFAT5):c.4633T>A (p.Leu1545Met)
NM_138713.4(NFAT5):c.473C>T (p.Thr158Ile)
NM_138713.4(NFAT5):c.487T>C (p.Ser163Pro)
NM_138713.4(NFAT5):c.491C>T (p.Pro164Leu)
NM_138713.4(NFAT5):c.499G>A (p.Glu167Lys) rs2151621771
NM_138713.4(NFAT5):c.501G>A (p.Glu167=) rs2151621780
NM_138713.4(NFAT5):c.535G>C (p.Asp179His) rs748172080
NM_138713.4(NFAT5):c.545G>A (p.Cys182Tyr) rs1039090408
NM_138713.4(NFAT5):c.550T>G (p.Leu184Val) rs770668167
NM_138713.4(NFAT5):c.557C>A (p.Ser186Tyr)
NM_138713.4(NFAT5):c.622T>G (p.Ser208Ala) rs2151622067
NM_138713.4(NFAT5):c.659G>A (p.Arg220Gln) rs1488062932
NM_138713.4(NFAT5):c.698G>A (p.Arg233Gln) rs1163354749
NM_138713.4(NFAT5):c.755A>T (p.His252Leu) rs2151622284
NM_138713.4(NFAT5):c.796T>C (p.Ser266Pro)
NM_138713.4(NFAT5):c.809A>G (p.Asn270Ser) rs1391597908
NM_138713.4(NFAT5):c.812+4G>A rs752147639
NM_138713.4(NFAT5):c.814A>G (p.Thr272Ala) rs2035749704
NM_138713.4(NFAT5):c.818T>G (p.Leu273Trp)
NM_138713.4(NFAT5):c.844A>G (p.Lys282Glu)
NM_138713.4(NFAT5):c.848A>G (p.Lys283Arg)
NM_138713.4(NFAT5):c.856A>G (p.Met286Val) rs2035750914
NM_138713.4(NFAT5):c.874C>T (p.Pro292Ser)
NM_138713.4(NFAT5):c.878T>C (p.Val293Ala)
NM_138713.4(NFAT5):c.903_904delinsAT (p.Ile302Leu) rs2151632884
NM_138713.4(NFAT5):c.925_926del (p.Gln309fs) rs2151632923
NM_138713.4(NFAT5):c.964T>C (p.Ser322Pro)

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.