ClinVar Miner

List of variants studied for Jackson-Weiss syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 263
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HGVS dbSNP gnomAD frequency
NM_023110.3(FGFR1):c.600C>T (p.Asp200=) rs17175898 0.00782
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=) rs56341011 0.00711
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819 0.00250
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_000141.5(FGFR2):c.2232C>T (p.Pro744=) rs142639988 0.00035
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=) rs150652786 0.00034
NM_000141.5(FGFR2):c.1986+7C>T rs199697707 0.00032
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=) rs374507681 0.00029
NM_000141.5(FGFR2):c.1761C>T (p.Ser587=) rs147173572 0.00027
NM_000141.5(FGFR2):c.1911C>T (p.Asn637=) rs149008039 0.00026
NM_000141.5(FGFR2):c.64C>T (p.Arg22Trp) rs377570596 0.00023
NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=) rs376173540 0.00014
NM_023110.3(FGFR1):c.422C>G (p.Thr141Arg) rs200482627 0.00014
NM_000141.5(FGFR2):c.1774C>T (p.Arg592Cys) rs141929882 0.00012
NM_000141.5(FGFR2):c.748+18C>T rs377269009 0.00012
NM_000141.5(FGFR2):c.2426T>C (p.Leu809Pro) rs368003279 0.00011
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr) rs372430349 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_000141.5(FGFR2):c.454+15G>A rs200275522 0.00010
NM_023110.3(FGFR1):c.231C>G (p.Asn77Lys) rs767195580 0.00010
NM_023110.3(FGFR1):c.2331C>G (p.Ser777=) rs763571736 0.00010
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His) rs369356672 0.00009
NM_023110.3(FGFR1):c.921T>C (p.Tyr307=) rs377010221 0.00009
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=) rs746123129 0.00008
NM_023110.3(FGFR1):c.211G>T (p.Val71Leu) rs561300213 0.00008
NM_000141.5(FGFR2):c.182G>A (p.Arg61His) rs199575491 0.00007
NM_023110.3(FGFR1):c.1408C>T (p.Arg470Cys) rs781310679 0.00007
NM_023110.3(FGFR1):c.2399C>T (p.Pro800Leu) rs377620009 0.00007
NM_023110.3(FGFR1):c.359-13C>G rs376369060 0.00007
NM_000141.5(FGFR2):c.420G>A (p.Ala140=) rs765024365 0.00006
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile) rs752627281 0.00006
NM_023110.3(FGFR1):c.1285-15C>T rs760069564 0.00006
NM_023110.3(FGFR1):c.2049-13C>T rs756845879 0.00006
NM_000141.5(FGFR2):c.*736dup rs886046762 0.00005
NM_000141.5(FGFR2):c.16C>T (p.Arg6Cys) rs141724446 0.00005
NM_000141.5(FGFR2):c.287G>T (p.Gly96Val) rs1277734487 0.00005
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr) rs759376422 0.00004
NM_023110.3(FGFR1):c.266A>G (p.Gln89Arg) rs773938208 0.00004
NM_023110.3(FGFR1):c.378G>T (p.Glu126Asp) rs758823379 0.00004
NM_023110.3(FGFR1):c.566G>A (p.Arg189His) rs778166317 0.00004
NM_023110.3(FGFR1):c.621+7G>T rs377200873 0.00004
NM_023110.3(FGFR1):c.92-14C>T rs547772178 0.00004
NM_000141.5(FGFR2):c.1086G>A (p.Ala362=) rs151250769 0.00003
NM_000141.5(FGFR2):c.1545C>T (p.Ala515=) rs778789088 0.00003
NM_000141.5(FGFR2):c.1818C>T (p.Cys606=) rs371395564 0.00003
NM_000141.5(FGFR2):c.362T>C (p.Met121Thr) rs748322657 0.00003
NM_000141.5(FGFR2):c.772C>T (p.Leu258Phe) rs747171741 0.00003
NM_023110.3(FGFR1):c.1595T>C (p.Met532Thr) rs777345476 0.00003
NM_023110.3(FGFR1):c.169C>A (p.Leu57Met) rs1301127877 0.00003
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=) rs777061347 0.00003
NM_023110.3(FGFR1):c.2186+19C>T rs776791517 0.00003
NM_023110.3(FGFR1):c.456T>C (p.Ala152=) rs369175953 0.00003
NM_000141.5(FGFR2):c.1085C>T (p.Ala362Val) rs757846343 0.00002
NM_000141.5(FGFR2):c.1238C>T (p.Pro413Leu) rs372348666 0.00002
NM_000141.5(FGFR2):c.1328C>T (p.Pro443Leu) rs757125418 0.00002
NM_000141.5(FGFR2):c.1348C>T (p.Arg450Cys) rs536181987 0.00002
NM_000141.5(FGFR2):c.1561+6C>T rs781352732 0.00002
NM_023110.3(FGFR1):c.1139A>G (p.Tyr380Cys) rs777103792 0.00002
NM_023110.3(FGFR1):c.1342C>T (p.Arg448Trp) rs749903780 0.00002
NM_023110.3(FGFR1):c.1663+10G>A rs901498652 0.00002
NM_023110.3(FGFR1):c.1809C>T (p.Cys603=) rs377314381 0.00002
NM_023110.3(FGFR1):c.2238C>T (p.Thr746=) rs774683007 0.00002
NM_023110.3(FGFR1):c.2267G>A (p.Arg756His) rs374473310 0.00002
NM_023110.3(FGFR1):c.2426G>A (p.Arg809Gln) rs771680156 0.00002
NM_023110.3(FGFR1):c.2465G>A (p.Arg822His) rs758677681 0.00002
NM_023110.3(FGFR1):c.621+19G>A rs945311072 0.00002
NM_023110.3(FGFR1):c.83C>T (p.Pro28Leu) rs145434725 0.00002
NM_000141.5(FGFR2):c.*1369C>T rs886046759 0.00001
NM_000141.5(FGFR2):c.1031C>G (p.Ala344Gly) rs121918492 0.00001
NM_000141.5(FGFR2):c.1155C>G (p.Val385=) rs531426519 0.00001
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu) rs772986332 0.00001
NM_000141.5(FGFR2):c.1240G>A (p.Ala414Thr) rs769880096 0.00001
NM_000141.5(FGFR2):c.1335G>T (p.Val445=) rs1460282965 0.00001
NM_000141.5(FGFR2):c.138A>C (p.Gln46His) rs748117555 0.00001
NM_000141.5(FGFR2):c.1637A>C (p.Asn546Thr) rs765658636 0.00001
NM_000141.5(FGFR2):c.1985A>G (p.Asn662Ser) rs962103382 0.00001
NM_000141.5(FGFR2):c.2077A>G (p.Met693Val) rs774682374 0.00001
NM_000141.5(FGFR2):c.419C>T (p.Ala140Val) rs752501698 0.00001
NM_000141.5(FGFR2):c.67C>A (p.Pro23Thr) rs1309596973 0.00001
NM_000141.5(FGFR2):c.788C>T (p.Pro263Leu) rs779326224 0.00001
NM_000141.5(FGFR2):c.910G>A (p.Asp304Asn) rs370877537 0.00001
NM_023110.3(FGFR1):c.*112C>T rs1189535138 0.00001
NM_023110.3(FGFR1):c.1072G>A (p.Val358Ile) rs774768179 0.00001
NM_023110.3(FGFR1):c.1078G>A (p.Glu360Lys) rs982371464 0.00001
NM_023110.3(FGFR1):c.1114C>T (p.Pro372Ser) rs377648976 0.00001
NM_023110.3(FGFR1):c.1179G>A (p.Ser393=) rs374674165 0.00001
NM_023110.3(FGFR1):c.1185C>T (p.Ile395=) rs756104594 0.00001
NM_023110.3(FGFR1):c.128T>G (p.Phe43Cys) rs1085307493 0.00001
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=) rs546318124 0.00001
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp) rs781608303 0.00001
NM_023110.3(FGFR1):c.1399G>A (p.Glu467Lys) rs923019674 0.00001
NM_023110.3(FGFR1):c.1424G>A (p.Arg475Gln) rs747333248 0.00001
NM_023110.3(FGFR1):c.1447C>T (p.Pro483Ser) rs397515444 0.00001
NM_023110.3(FGFR1):c.1711G>A (p.Glu571Lys) rs771720144 0.00001
NM_023110.3(FGFR1):c.173G>A (p.Arg58Gln) rs200116660 0.00001
NM_023110.3(FGFR1):c.1774G>A (p.Glu592Lys) rs755002934 0.00001
NM_023110.3(FGFR1):c.178G>A (p.Asp60Asn) rs1586379709 0.00001
NM_023110.3(FGFR1):c.1978-13G>A rs761708658 0.00001
NM_023110.3(FGFR1):c.1978-16C>T rs764971696 0.00001
NM_023110.3(FGFR1):c.2023C>T (p.Arg675Trp) rs375611478 0.00001
NM_023110.3(FGFR1):c.2058C>T (p.Phe686=) rs1193961883 0.00001
NM_023110.3(FGFR1):c.20T>G (p.Leu7Arg) rs532741632 0.00001
NM_023110.3(FGFR1):c.2200C>T (p.Arg734Trp) rs1329256283 0.00001
NM_023110.3(FGFR1):c.2271C>T (p.Ile757=) rs369782405 0.00001
NM_023110.3(FGFR1):c.2350C>T (p.Arg784Trp) rs377149398 0.00001
NM_023110.3(FGFR1):c.2370_2371del (p.Glu792fs) rs767698667 0.00001
NM_023110.3(FGFR1):c.274G>A (p.Val92Met) rs755828990 0.00001
NM_023110.3(FGFR1):c.332C>T (p.Thr111Ile) rs775020833 0.00001
NM_023110.3(FGFR1):c.346G>A (p.Val116Ile) rs747842199 0.00001
NM_023110.3(FGFR1):c.381T>G (p.Asp127Glu) rs750795714 0.00001
NM_023110.3(FGFR1):c.403T>A (p.Ser135Thr) rs775228360 0.00001
NM_023110.3(FGFR1):c.442C>T (p.Arg148Cys) rs780153672 0.00001
NM_023110.3(FGFR1):c.443G>A (p.Arg148His) rs515726222 0.00001
NM_023110.3(FGFR1):c.584A>G (p.Lys195Arg) rs770139002 0.00001
NM_023110.3(FGFR1):c.8G>A (p.Ser3Asn) rs751651299 0.00001
NM_000141.5(FGFR2):c.*1498_*1502del rs566259479
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.*641_*644del rs548465887
NM_000141.5(FGFR2):c.-17G>C rs766629665
NM_000141.5(FGFR2):c.-298_-297dup rs41301549
NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.5(FGFR2):c.1024T>A (p.Cys342Ser) rs121918488
NM_000141.5(FGFR2):c.1024T>C (p.Cys342Arg) rs121918488
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1025G>C (p.Cys342Ser) rs121918487
NM_000141.5(FGFR2):c.1025G>T (p.Cys342Phe) rs121918487
NM_000141.5(FGFR2):c.1029G>A (p.Leu343=)
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) rs121918491
NM_000141.5(FGFR2):c.1062T>A (p.Ser354=)
NM_000141.5(FGFR2):c.110-22TC[3] rs773932794
NM_000141.5(FGFR2):c.1117C>T (p.Pro373Ser)
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1124A>T (p.Tyr375Phe)
NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) rs1554927408
NM_000141.5(FGFR2):c.119C>T (p.Thr40Ile)
NM_000141.5(FGFR2):c.1200G>A (p.Met400Ile)
NM_000141.5(FGFR2):c.1252C>G (p.Leu418Val)
NM_000141.5(FGFR2):c.1262G>A (p.Arg421His)
NM_000141.5(FGFR2):c.1303A>G (p.Ser435Gly)
NM_000141.5(FGFR2):c.1313T>C (p.Met438Thr)
NM_000141.5(FGFR2):c.1325C>T (p.Thr442Ile)
NM_000141.5(FGFR2):c.1328C>G (p.Pro443Arg)
NM_000141.5(FGFR2):c.1342A>G (p.Thr448Ala)
NM_000141.5(FGFR2):c.1355C>T (p.Ser452Phe)
NM_000141.5(FGFR2):c.1356T>A (p.Ser452=) rs2134060289
NM_000141.5(FGFR2):c.1367A>G (p.Asp456Gly)
NM_000141.5(FGFR2):c.1372C>A (p.Pro458Thr)
NM_000141.5(FGFR2):c.143A>C (p.Glu48Ala)
NM_000141.5(FGFR2):c.1486G>A (p.Val496Ile)
NM_000141.5(FGFR2):c.151G>A (p.Val51Met)
NM_000141.5(FGFR2):c.1531G>T (p.Ala511Ser)
NM_000141.5(FGFR2):c.1562-9_1562-7delinsAA rs2133978031
NM_000141.5(FGFR2):c.160C>T (p.Pro54Ser)
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly) rs121918506
NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp) rs1564875549
NM_000141.5(FGFR2):c.1746C>T (p.Pro582=) rs369850306
NM_000141.5(FGFR2):c.1800C>T (p.Phe600=)
NM_000141.5(FGFR2):c.1840A>G (p.Met614Val)
NM_000141.5(FGFR2):c.1907A>G (p.Glu636Gly)
NM_000141.5(FGFR2):c.1915G>A (p.Val639Met)
NM_000141.5(FGFR2):c.1957A>C (p.Asn653His)
NM_000141.5(FGFR2):c.195A>G (p.Lys65=)
NM_000141.5(FGFR2):c.1986+19C>G
NM_000141.5(FGFR2):c.1987-20A>T rs772633227
NM_000141.5(FGFR2):c.2056G>A (p.Val686Ile)
NM_000141.5(FGFR2):c.2231C>T (p.Pro744Leu)
NM_000141.5(FGFR2):c.2240G>T (p.Arg747Ile)
NM_000141.5(FGFR2):c.2246C>T (p.Thr749Met)
NM_000141.5(FGFR2):c.2251A>C (p.Lys751Gln)
NM_000141.5(FGFR2):c.2260G>A (p.Val754Ile)
NM_000141.5(FGFR2):c.2276G>A (p.Arg759Gln)
NM_000141.5(FGFR2):c.236T>G (p.Leu79Trp)
NM_000141.5(FGFR2):c.2411C>T (p.Pro804Leu)
NM_000141.5(FGFR2):c.2444_2445del (p.Ile815fs) rs771208561
NM_000141.5(FGFR2):c.248A>T (p.Asn83Ile)
NM_000141.5(FGFR2):c.257T>G (p.Val86Gly)
NM_000141.5(FGFR2):c.287G>A (p.Gly96Asp) rs1277734487
NM_000141.5(FGFR2):c.293C>T (p.Thr98Met)
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000141.5(FGFR2):c.390C>G (p.Ser130=) rs1029635273
NM_000141.5(FGFR2):c.43A>C (p.Met15Leu)
NM_000141.5(FGFR2):c.532C>T (p.Arg178Cys)
NM_000141.5(FGFR2):c.544G>T (p.Gly182Trp)
NM_000141.5(FGFR2):c.556A>G (p.Met186Val)
NM_000141.5(FGFR2):c.610A>G (p.Ile204Val)
NM_000141.5(FGFR2):c.68C>A (p.Pro23His)
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000141.5(FGFR2):c.781G>A (p.Gly261Arg) rs2134317947
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro) rs121918497
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys) rs121918499
NM_000141.5(FGFR2):c.877C>T (p.His293Tyr) rs748526473
NM_000141.5(FGFR2):c.904G>A (p.Gly302Arg)
NM_000141.5(FGFR2):c.940-2A>G rs1057519041
NM_000141.5(FGFR2):c.943G>A (p.Ala315Thr)
NM_000141.5(FGFR2):c.943G>T (p.Ala315Ser) rs121918504
NM_000141.5(FGFR2):c.963C>A (p.Asp321Glu)
NM_000141.5(FGFR2):c.988C>T (p.Arg330Trp)
NM_022970.4(FGFR2):c.1017A>G (p.Ile339Met)
NM_023110.3(FGFR1):c.-88-3566dup rs1424371425
NM_023110.3(FGFR1):c.1039A>G (p.Ile347Val)
NM_023110.3(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.3(FGFR1):c.112G>A (p.Val38Met)
NM_023110.3(FGFR1):c.1137C>T (p.Ile379=)
NM_023110.3(FGFR1):c.1171G>A (p.Val391Met)
NM_023110.3(FGFR1):c.1196T>C (p.Met399Thr)
NM_023110.3(FGFR1):c.1270C>A (p.Arg424Ser)
NM_023110.3(FGFR1):c.1285-18C>G
NM_023110.3(FGFR1):c.1288T>A (p.Ser430Thr)
NM_023110.3(FGFR1):c.1309A>G (p.Met437Val)
NM_023110.3(FGFR1):c.1324C>G (p.Leu442Val)
NM_023110.3(FGFR1):c.1343G>A (p.Arg448Gln) rs758138124
NM_023110.3(FGFR1):c.1352C>A (p.Ser451Tyr)
NM_023110.3(FGFR1):c.1383T>C (p.Ser461=)
NM_023110.3(FGFR1):c.148C>T (p.Leu50=)
NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg) rs759552236
NM_023110.3(FGFR1):c.1710G>T (p.Arg570=)
NM_023110.3(FGFR1):c.1727G>A (p.Arg576Gln) rs1482868825
NM_023110.3(FGFR1):c.1767C>A (p.His589Gln)
NM_023110.3(FGFR1):c.176A>T (p.Asp59Val)
NM_023110.3(FGFR1):c.1775A>G (p.Glu592Gly)
NM_023110.3(FGFR1):c.1793A>C (p.Lys598Thr)
NM_023110.3(FGFR1):c.1854+2T>C
NM_023110.3(FGFR1):c.194A>G (p.Asn65Ser)
NM_023110.3(FGFR1):c.1977+1G>A rs876661334
NM_023110.3(FGFR1):c.2031C>T (p.Tyr677=)
NM_023110.3(FGFR1):c.205G>A (p.Asp69Asn)
NM_023110.3(FGFR1):c.2107G>A (p.Gly703Ser)
NM_023110.3(FGFR1):c.2121G>A (p.Glu707=)
NM_023110.3(FGFR1):c.214C>T (p.Gln72Ter) rs1554570813
NM_023110.3(FGFR1):c.2150A>G (p.His717Arg)
NM_023110.3(FGFR1):c.2187-19C>T rs376583717
NM_023110.3(FGFR1):c.2228A>G (p.Gln743Arg)
NM_023110.3(FGFR1):c.2251G>A (p.Val751Met) rs2150520798
NM_023110.3(FGFR1):c.2292G>C (p.Gln764His)
NM_023110.3(FGFR1):c.2313G>A (p.Met771Ile)
NM_023110.3(FGFR1):c.2323C>G (p.Gln775Glu) rs1232665126
NM_023110.3(FGFR1):c.2327del (p.Tyr776fs)
NM_023110.3(FGFR1):c.2344G>A (p.Asp782Asn)
NM_023110.3(FGFR1):c.2360C>T (p.Thr787Met)
NM_023110.3(FGFR1):c.2407G>A (p.Glu803Lys)
NM_023110.3(FGFR1):c.2413C>T (p.Pro805Ser)
NM_023110.3(FGFR1):c.2425C>T (p.Arg809Ter)
NM_023110.3(FGFR1):c.245C>G (p.Thr82Arg)
NM_023110.3(FGFR1):c.2461C>T (p.Arg821Cys)
NM_023110.3(FGFR1):c.281C>A (p.Ala94Glu)
NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) rs1260404537
NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del) rs138489552
NM_023110.3(FGFR1):c.391G>A (p.Asp131Asn) rs1821566729
NM_023110.3(FGFR1):c.399C>A (p.Asp133Glu)
NM_023110.3(FGFR1):c.448+1G>A rs376416531
NM_023110.3(FGFR1):c.448+1G>C rs376416531
NM_023110.3(FGFR1):c.622-20C>T
NM_023110.3(FGFR1):c.626G>A (p.Arg209His)
NM_023110.3(FGFR1):c.710G>A (p.Gly237Asp)
NM_023110.3(FGFR1):c.746-14C>T
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg) rs121909627
NM_023110.3(FGFR1):c.789C>T (p.Ala263=) rs780944776
NM_023110.3(FGFR1):c.809G>A (p.Gly270Asp) rs2150822504
NM_023110.3(FGFR1):c.821A>G (p.Glu274Gly) rs727505369
NM_023110.3(FGFR1):c.827T>C (p.Met276Thr)
NM_023110.3(FGFR1):c.92-14C>A

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