ClinVar Miner

List of variants in gene SETD2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 303
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HGVS dbSNP gnomAD frequency
NM_014159.7(SETD2):c.5143-166G>A rs12631730 0.83696
NM_014159.7(SETD2):c.3465T>C (p.Asn1155=) rs6767907 0.65555
NM_014159.7(SETD2):c.7350+44C>T rs6768722 0.65313
NM_014159.7(SETD2):c.6109+230G>A rs9844122 0.65306
NM_014159.7(SETD2):c.6293+277G>A rs9845728 0.65269
NM_014159.7(SETD2):c.7432-94G>A rs2385867 0.55289
NM_014159.7(SETD2):c.5885C>T (p.Pro1962Leu) rs4082155 0.49386
NM_014159.7(SETD2):c.7098+140A>T rs13063578 0.45644
NM_014159.7(SETD2):c.5142+249C>G rs7644382 0.04583
NM_014159.7(SETD2):c.6964-283T>G rs9831464 0.04579
NM_014159.7(SETD2):c.7098+128T>C rs78188645 0.04409
NM_014159.7(SETD2):c.6109+45C>T rs79752114 0.03898
NM_014159.7(SETD2):c.7098+320C>T rs138535378 0.03035
NM_014159.7(SETD2):c.72-66A>G rs11717033 0.02941
NM_014159.7(SETD2):c.3240G>A (p.Met1080Ile) rs76208147 0.02797
NM_014159.7(SETD2):c.7238+269G>C rs79545841 0.02795
NM_014159.7(SETD2):c.6061-46A>G rs77252032 0.02786
NM_014159.7(SETD2):c.2704G>C (p.Glu902Gln) rs58906143 0.01669
NM_014159.7(SETD2):c.6110-302A>G rs151302053 0.01455
NM_014159.7(SETD2):c.4872T>A (p.Ser1624=) rs75763513 0.01071
NM_014159.7(SETD2):c.5278-257A>T rs6771992 0.00956
NM_014159.7(SETD2):c.5143-47T>G rs183862100 0.00948
NM_014159.7(SETD2):c.3249A>C (p.Thr1083=) rs80241480 0.00871
NM_014159.7(SETD2):c.2543C>T (p.Ala848Val) rs75248784 0.00870
NM_014159.7(SETD2):c.72-152dup rs200216979 0.00789
NM_014159.7(SETD2):c.557C>T (p.Pro186Leu) rs78759480 0.00723
NM_014159.7(SETD2):c.6060+266C>T rs181463154 0.00693
NM_014159.7(SETD2):c.7432-102A>T rs150163751 0.00688
NM_014159.7(SETD2):c.4586+123A>T rs183601200 0.00652
NM_014159.7(SETD2):c.7238+53G>A rs139159960 0.00560
NM_014159.7(SETD2):c.4918-76A>G rs932394374 0.00409
NM_014159.7(SETD2):c.5271C>T (p.Leu1757=) rs144825663 0.00389
NM_014159.7(SETD2):c.5277+117A>G rs138282303 0.00369
NM_014159.7(SETD2):c.5143-240T>G rs529665591 0.00366
NM_014159.7(SETD2):c.7098+235C>T rs144641521 0.00305
NM_014159.7(SETD2):c.2783C>G (p.Thr928Arg) rs72895708 0.00228
NM_014159.7(SETD2):c.4320A>T (p.Pro1440=) rs74485823 0.00191
NM_014159.7(SETD2):c.2302G>C (p.Val768Leu) rs9311404 0.00182
NM_014159.7(SETD2):c.6173A>G (p.Asn2058Ser) rs116277395 0.00141
NM_014159.7(SETD2):c.3567C>T (p.Thr1189=) rs140803915 0.00131
NM_014159.7(SETD2):c.5143-20A>G rs201987175 0.00123
NM_014159.7(SETD2):c.3229A>G (p.Thr1077Ala) rs114719990 0.00095
NM_014159.7(SETD2):c.4059C>T (p.Ser1353=) rs113560046 0.00092
NM_014159.7(SETD2):c.1775C>A (p.Thr592Lys) rs115569620 0.00088
NM_014159.7(SETD2):c.3422C>T (p.Pro1141Leu) rs142723093 0.00088
NM_014159.7(SETD2):c.4011A>G (p.Glu1337=) rs115927459 0.00078
NM_014159.7(SETD2):c.3097A>G (p.Thr1033Ala) rs145759179 0.00063
NM_014159.7(SETD2):c.1415G>A (p.Arg472His) rs201984344 0.00050
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu) rs145650484 0.00047
NM_014159.7(SETD2):c.7164C>T (p.Thr2388=) rs144752494 0.00047
NM_014159.7(SETD2):c.1734A>T (p.Leu578Phe) rs138401612 0.00038
NM_014159.7(SETD2):c.1205G>A (p.Arg402Gln) rs182736967 0.00036
NM_014159.7(SETD2):c.7500C>T (p.Thr2500=) rs148499835 0.00036
NM_014159.7(SETD2):c.2251C>A (p.Pro751Thr) rs115788094 0.00034
NM_014159.7(SETD2):c.4193T>C (p.Ile1398Thr) rs145732065 0.00032
NM_014159.7(SETD2):c.6786C>T (p.Pro2262=) rs149552397 0.00032
NM_014159.7(SETD2):c.4060G>A (p.Asp1354Asn) rs138005965 0.00031
NM_014159.7(SETD2):c.5900G>A (p.Gly1967Asp) rs143991928 0.00031
NM_014159.7(SETD2):c.590C>T (p.Ala197Val) rs374950143 0.00029
NM_014159.7(SETD2):c.3484C>T (p.His1162Tyr) rs137871492 0.00028
NM_014159.7(SETD2):c.1986A>G (p.Gln662=) rs146562413 0.00026
NM_014159.7(SETD2):c.500C>T (p.Pro167Leu) rs78682369 0.00025
NM_014159.7(SETD2):c.6455A>G (p.Tyr2152Cys) rs139628048 0.00024
NM_014159.7(SETD2):c.2096A>G (p.Asp699Gly) rs368132877 0.00022
NM_014159.7(SETD2):c.1412G>A (p.Arg471Lys) rs191313431 0.00021
NM_014159.7(SETD2):c.2032G>A (p.Gly678Arg) rs145499611 0.00017
NM_014159.7(SETD2):c.7350+6T>C rs369951554 0.00015
NM_014159.7(SETD2):c.265C>T (p.Leu89Phe) rs374799616 0.00014
NM_014159.7(SETD2):c.558G>A (p.Pro186=) rs183095591 0.00012
NM_014159.7(SETD2):c.7060A>G (p.Thr2354Ala) rs145377213 0.00012
NM_014159.7(SETD2):c.1180T>C (p.Cys394Arg) rs368465960 0.00010
NM_014159.7(SETD2):c.2798G>T (p.Gly933Val) rs202209141 0.00010
NM_014159.7(SETD2):c.1343G>A (p.Arg448Gln) rs564020755 0.00006
NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp) rs115859828 0.00005
NM_014159.7(SETD2):c.986G>A (p.Arg329Gln) rs540015912 0.00005
NM_014159.7(SETD2):c.2849G>A (p.Arg950His) rs149265978 0.00004
NM_014159.7(SETD2):c.5057G>A (p.Arg1686Gln) rs367601805 0.00004
NM_014159.7(SETD2):c.6044G>A (p.Ser2015Asn) rs1366338930 0.00004
NM_014159.7(SETD2):c.6810T>C (p.Tyr2270=) rs114332101 0.00004
NM_014159.7(SETD2):c.1914C>T (p.Ser638=) rs1371836213 0.00003
NM_014159.7(SETD2):c.2603A>G (p.Asp868Gly) rs201752182 0.00003
NM_014159.7(SETD2):c.3361G>A (p.Ala1121Thr) rs1336548478 0.00003
NM_014159.7(SETD2):c.475A>G (p.Thr159Ala) rs369333306 0.00003
NM_014159.7(SETD2):c.5427T>C (p.Ile1809=) rs762759698 0.00003
NM_014159.7(SETD2):c.1727C>T (p.Thr576Ile) rs752022280 0.00002
NM_014159.7(SETD2):c.1928A>G (p.His643Arg) rs776293901 0.00002
NM_014159.7(SETD2):c.3136A>G (p.Asn1046Asp) rs199890800 0.00002
NM_014159.7(SETD2):c.316G>A (p.Val106Ile) rs918252164 0.00002
NM_014159.7(SETD2):c.5040C>T (p.Cys1680=) rs764385874 0.00002
NM_014159.7(SETD2):c.603A>G (p.Thr201=) rs2043221625 0.00002
NM_014159.7(SETD2):c.6686T>G (p.Val2229Gly) rs377066147 0.00002
NM_014159.7(SETD2):c.7239-8C>T rs375557161 0.00002
NM_014159.7(SETD2):c.1043A>G (p.Glu348Gly) rs1024103793 0.00001
NM_014159.7(SETD2):c.1166A>G (p.Tyr389Cys) rs2043191929 0.00001
NM_014159.7(SETD2):c.1523G>T (p.Gly508Val) rs768072239 0.00001
NM_014159.7(SETD2):c.1603A>G (p.Asn535Asp) rs778603109 0.00001
NM_014159.7(SETD2):c.1634A>G (p.Tyr545Cys) rs765512793 0.00001
NM_014159.7(SETD2):c.1688T>C (p.Ile563Thr) rs202178837 0.00001
NM_014159.7(SETD2):c.1855A>G (p.Asn619Asp) rs1398723100 0.00001
NM_014159.7(SETD2):c.2024G>A (p.Gly675Glu) rs568134733 0.00001
NM_014159.7(SETD2):c.2342C>T (p.Thr781Met) rs1313153861 0.00001
NM_014159.7(SETD2):c.2702G>C (p.Gly901Ala) rs1194240525 0.00001
NM_014159.7(SETD2):c.3251G>A (p.Ser1084Asn) rs753435281 0.00001
NM_014159.7(SETD2):c.3316T>C (p.Leu1106=) rs779666460 0.00001
NM_014159.7(SETD2):c.3621T>C (p.Ser1207=) rs577048438 0.00001
NM_014159.7(SETD2):c.4027C>A (p.Gln1343Lys) rs781672875 0.00001
NM_014159.7(SETD2):c.435G>C (p.Lys145Asn) rs749274416 0.00001
NM_014159.7(SETD2):c.4628G>A (p.Arg1543Gln) rs752011468 0.00001
NM_014159.7(SETD2):c.4680A>G (p.Lys1560=) rs780684040 0.00001
NM_014159.7(SETD2):c.473C>T (p.Ala158Val) rs994824638 0.00001
NM_014159.7(SETD2):c.5549G>C (p.Arg1850Pro) rs1341433062 0.00001
NM_014159.7(SETD2):c.5899G>A (p.Gly1967Ser) rs371395770 0.00001
NM_014159.7(SETD2):c.6029C>T (p.Thr2010Ile) rs2041416610 0.00001
NM_014159.7(SETD2):c.6090A>G (p.Gln2030=) rs758026999 0.00001
NM_014159.7(SETD2):c.6854A>G (p.Gln2285Arg) rs1318081365 0.00001
NM_014159.7(SETD2):c.7444A>G (p.Ile2482Val) rs761150552 0.00001
NM_014159.7(SETD2):c.881A>T (p.Asp294Val) rs915409808 0.00001
NM_014159.6(SETD2):c.4457_4460del rs1553699115
NM_014159.7(SETD2):c.1048_1049del (p.Asp350fs) rs1575818503
NM_014159.7(SETD2):c.1105T>C (p.Ser369Pro) rs2106706031
NM_014159.7(SETD2):c.1116_1119del (p.Asp372fs)
NM_014159.7(SETD2):c.1145A>T (p.Lys382Ile) rs1064796875
NM_014159.7(SETD2):c.1153A>G (p.Arg385Gly) rs1224970719
NM_014159.7(SETD2):c.1204C>T (p.Arg402Trp) rs779483918
NM_014159.7(SETD2):c.1289_1290del (p.Asp429_Ser430insTer) rs1575817869
NM_014159.7(SETD2):c.1352C>T (p.Thr451Ile)
NM_014159.7(SETD2):c.1438T>A (p.Tyr480Asn)
NM_014159.7(SETD2):c.1454C>T (p.Thr485Ile)
NM_014159.7(SETD2):c.1486A>C (p.Lys496Gln)
NM_014159.7(SETD2):c.1498T>C (p.Ser500Pro)
NM_014159.7(SETD2):c.1511T>C (p.Met504Thr)
NM_014159.7(SETD2):c.1601C>T (p.Pro534Leu)
NM_014159.7(SETD2):c.1697C>G (p.Ser566Cys) rs2043162382
NM_014159.7(SETD2):c.1700A>G (p.Asp567Gly)
NM_014159.7(SETD2):c.1780T>A (p.Cys594Ser)
NM_014159.7(SETD2):c.1846G>C (p.Ala616Pro)
NM_014159.7(SETD2):c.1885_1887del (p.Lys629del) rs2106686435
NM_014159.7(SETD2):c.1897_1908del (p.Leu633_Phe636del)
NM_014159.7(SETD2):c.1899G>A (p.Leu633=) rs1575816326
NM_014159.7(SETD2):c.1912T>G (p.Ser638Ala)
NM_014159.7(SETD2):c.1957G>C (p.Asp653His)
NM_014159.7(SETD2):c.1962T>C (p.Ser654=) rs1575816201
NM_014159.7(SETD2):c.2038G>A (p.Glu680Lys) rs2106682546
NM_014159.7(SETD2):c.2047T>A (p.Leu683Met)
NM_014159.7(SETD2):c.2049G>T (p.Leu683Phe)
NM_014159.7(SETD2):c.2093C>T (p.Ser698Phe)
NM_014159.7(SETD2):c.209G>A (p.Arg70Gln) rs2043244124
NM_014159.7(SETD2):c.2105T>G (p.Val702Gly)
NM_014159.7(SETD2):c.2140T>C (p.Cys714Arg) rs2106679915
NM_014159.7(SETD2):c.2205C>G (p.Thr735=) rs1398507583
NM_014159.7(SETD2):c.2254C>G (p.Leu752Val) rs2106677070
NM_014159.7(SETD2):c.2303_2304del (p.Val768fs) rs2106675579
NM_014159.7(SETD2):c.2360A>C (p.Lys787Thr)
NM_014159.7(SETD2):c.2362A>T (p.Thr788Ser)
NM_014159.7(SETD2):c.2384G>C (p.Cys795Ser)
NM_014159.7(SETD2):c.2454G>T (p.Lys818Asn)
NM_014159.7(SETD2):c.2504T>C (p.Ile835Thr)
NM_014159.7(SETD2):c.2593A>C (p.Asn865His) rs2106667460
NM_014159.7(SETD2):c.2616A>C (p.Gln872His)
NM_014159.7(SETD2):c.2700C>G (p.Cys900Trp)
NM_014159.7(SETD2):c.2742_2743dup (p.Lys915fs) rs1553700642
NM_014159.7(SETD2):c.2751T>A (p.Ser917Arg)
NM_014159.7(SETD2):c.2866G>A (p.Gly956Arg) rs1378974840
NM_014159.7(SETD2):c.2871A>G (p.Lys957=)
NM_014159.7(SETD2):c.2884G>C (p.Ala962Pro)
NM_014159.7(SETD2):c.2909T>G (p.Leu970Trp) rs2106659081
NM_014159.7(SETD2):c.2930C>T (p.Pro977Leu) rs2106658454
NM_014159.7(SETD2):c.3064G>A (p.Asp1022Asn)
NM_014159.7(SETD2):c.3214G>A (p.Val1072Met)
NM_014159.7(SETD2):c.3220A>G (p.Lys1074Glu)
NM_014159.7(SETD2):c.3239T>C (p.Met1080Thr) rs2043080502
NM_014159.7(SETD2):c.3247A>C (p.Thr1083Pro)
NM_014159.7(SETD2):c.3331C>T (p.His1111Tyr)
NM_014159.7(SETD2):c.3334T>C (p.Leu1112=) rs1487228978
NM_014159.7(SETD2):c.3406G>A (p.Gly1136Arg) rs1305587765
NM_014159.7(SETD2):c.3426A>C (p.Glu1142Asp) rs1161942915
NM_014159.7(SETD2):c.3441G>A (p.Gln1147=)
NM_014159.7(SETD2):c.3458T>C (p.Ile1153Thr)
NM_014159.7(SETD2):c.3545G>A (p.Gly1182Asp)
NM_014159.7(SETD2):c.3607C>T (p.Pro1203Ser) rs2107748847
NM_014159.7(SETD2):c.3646T>C (p.Ser1216Pro) rs1575811719
NM_014159.7(SETD2):c.3682A>G (p.Ser1228Gly) rs1294397889
NM_014159.7(SETD2):c.3737T>G (p.Val1246Gly) rs1471563665
NM_014159.7(SETD2):c.3793G>A (p.Glu1265Lys)
NM_014159.7(SETD2):c.3896A>C (p.Tyr1299Ser) rs2107745387
NM_014159.7(SETD2):c.3913T>C (p.Tyr1305His) rs2107745196
NM_014159.7(SETD2):c.3932G>A (p.Gly1311Asp)
NM_014159.7(SETD2):c.3946A>C (p.Thr1316Pro)
NM_014159.7(SETD2):c.3946A>G (p.Thr1316Ala) rs2043040689
NM_014159.7(SETD2):c.4048T>A (p.Ser1350Thr)
NM_014159.7(SETD2):c.4093G>A (p.Gly1365Arg) rs772882978
NM_014159.7(SETD2):c.4137C>T (p.Asp1379=) rs769080716
NM_014159.7(SETD2):c.4200T>C (p.Asp1400=)
NM_014159.7(SETD2):c.4327G>T (p.Ala1443Ser)
NM_014159.7(SETD2):c.4332G>A (p.Leu1444=)
NM_014159.7(SETD2):c.440A>T (p.His147Leu)
NM_014159.7(SETD2):c.4454+1G>A
NM_014159.7(SETD2):c.4454G>C (p.Arg1485Thr) rs2107738793
NM_014159.7(SETD2):c.4483A>C (p.Lys1495Gln) rs1553699113
NM_014159.7(SETD2):c.4486C>T (p.Arg1496Ter) rs2107728809
NM_014159.7(SETD2):c.4487G>A (p.Arg1496Gln) rs1553699111
NM_014159.7(SETD2):c.4510_4511del (p.Leu1504fs)
NM_014159.7(SETD2):c.452T>C (p.Val151Ala) rs2106722113
NM_014159.7(SETD2):c.4595G>A (p.Arg1532Gln) rs2107720003
NM_014159.7(SETD2):c.4605T>C (p.Asn1535=)
NM_014159.7(SETD2):c.4622A>G (p.Asn1541Ser)
NM_014159.7(SETD2):c.4634A>G (p.Gln1545Arg)
NM_014159.7(SETD2):c.4715+1G>A rs1485723437
NM_014159.7(SETD2):c.4715+1G>C rs1485723437
NM_014159.7(SETD2):c.4774C>T (p.Arg1592Ter) rs1057518410
NM_014159.7(SETD2):c.4819A>G (p.Met1607Val)
NM_014159.7(SETD2):c.4839+72dup rs55987628
NM_014159.7(SETD2):c.4839+90_4839+93del rs55987628
NM_014159.7(SETD2):c.4839+91_4839+93del rs55987628
NM_014159.7(SETD2):c.4839+92_4839+93del rs55987628
NM_014159.7(SETD2):c.4839+93del rs55987628
NM_014159.7(SETD2):c.4847A>T (p.Asp1616Val) rs1064794751
NM_014159.7(SETD2):c.4856A>T (p.Gln1619Leu) rs2042289575
NM_014159.7(SETD2):c.4918-78AC[16] rs61571386
NM_014159.7(SETD2):c.4918-78AC[17] rs61571386
NM_014159.7(SETD2):c.4918-78AC[19] rs61571386
NM_014159.7(SETD2):c.4918-78AC[20] rs61571386
NM_014159.7(SETD2):c.4918-82GC[3] rs59089794
NM_014159.7(SETD2):c.5015+39_5015+40del rs60548476
NM_014159.7(SETD2):c.5060G>T (p.Gly1687Val)
NM_014159.7(SETD2):c.5102G>T (p.Gly1701Val)
NM_014159.7(SETD2):c.5143-166_5143-164del rs202029893
NM_014159.7(SETD2):c.5143-251_5143-249dup rs61660827
NM_014159.7(SETD2):c.5143-45del rs748501527
NM_014159.7(SETD2):c.5143-55dup rs748501527
NM_014159.7(SETD2):c.5152G>A (p.Glu1718Lys)
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014159.7(SETD2):c.5219G>A (p.Arg1740Gln) rs2107651195
NM_014159.7(SETD2):c.5277+121GTTT[6] rs56810001
NM_014159.7(SETD2):c.5277+238_5277+239insCTC rs10662952
NM_014159.7(SETD2):c.5278-1G>C rs2107646414
NM_014159.7(SETD2):c.5322T>C (p.His1774=)
NM_014159.7(SETD2):c.5385G>A (p.Lys1795=) rs772800229
NM_014159.7(SETD2):c.5397+335_5397+336del rs140225710
NM_014159.7(SETD2):c.5398-13T>A rs1553690514
NM_014159.7(SETD2):c.5398-45del rs5848822
NM_014159.7(SETD2):c.5398-46_5398-45del rs5848822
NM_014159.7(SETD2):c.5398-60dup rs5848822
NM_014159.7(SETD2):c.539C>T (p.Ser180Leu) rs1559750451
NM_014159.7(SETD2):c.5542A>G (p.Thr1848Ala) rs1575745202
NM_014159.7(SETD2):c.554C>T (p.Ser185Leu)
NM_014159.7(SETD2):c.5574T>C (p.Pro1858=)
NM_014159.7(SETD2):c.5585C>G (p.Thr1862Ser)
NM_014159.7(SETD2):c.5627T>C (p.Leu1876Pro)
NM_014159.7(SETD2):c.5660A>G (p.Asn1887Ser)
NM_014159.7(SETD2):c.5713G>A (p.Gly1905Ser)
NM_014159.7(SETD2):c.5738A>C (p.Glu1913Ala)
NM_014159.7(SETD2):c.5752G>A (p.Glu1918Lys)
NM_014159.7(SETD2):c.5872G>C (p.Ala1958Pro) rs377115716
NM_014159.7(SETD2):c.5949_5951del (p.Glu1985del) rs2107638020
NM_014159.7(SETD2):c.6061-289del rs548953692
NM_014159.7(SETD2):c.6061-314_6061-313dup rs548953692
NM_014159.7(SETD2):c.6061-314dup rs548953692
NM_014159.7(SETD2):c.6086G>A (p.Ser2029Asn)
NM_014159.7(SETD2):c.6090A>T (p.Gln2030His)
NM_014159.7(SETD2):c.6109+199C>T rs73079603
NM_014159.7(SETD2):c.6110-157_6110-156del rs72459590
NM_014159.7(SETD2):c.6110-26del rs10589946
NM_014159.7(SETD2):c.6110-27_6110-26del rs10589946
NM_014159.7(SETD2):c.6110-39dup rs10589946
NM_014159.7(SETD2):c.622G>A (p.Val208Ile)
NM_014159.7(SETD2):c.6239C>G (p.Ser2080Cys) rs2107588983
NM_014159.7(SETD2):c.6241C>T (p.Leu2081Phe) rs1553685117
NM_014159.7(SETD2):c.6305C>T (p.Pro2102Leu)
NM_014159.7(SETD2):c.6325C>T (p.Arg2109Ter)
NM_014159.7(SETD2):c.6329T>C (p.Ile2110Thr)
NM_014159.7(SETD2):c.6445C>A (p.Pro2149Thr)
NM_014159.7(SETD2):c.6543C>A (p.Asn2181Lys)
NM_014159.7(SETD2):c.6641C>T (p.Thr2214Ile)
NM_014159.7(SETD2):c.6679C>T (p.Pro2227Ser)
NM_014159.7(SETD2):c.6793G>A (p.Val2265Ile) rs2040110568
NM_014159.7(SETD2):c.6821A>C (p.Asp2274Ala) rs373366089
NM_014159.7(SETD2):c.6931C>T (p.Pro2311Ser)
NM_014159.7(SETD2):c.6970G>T (p.Ala2324Ser) rs1162711197
NM_014159.7(SETD2):c.7001A>G (p.Gln2334Arg) rs2107549649
NM_014159.7(SETD2):c.7021C>T (p.Pro2341Ser)
NM_014159.7(SETD2):c.7030G>T (p.Val2344Leu) rs754588966
NM_014159.7(SETD2):c.7096C>T (p.Pro2366Ser)
NM_014159.7(SETD2):c.7168G>A (p.Val2390Ile) rs1468250923
NM_014159.7(SETD2):c.7210A>G (p.Lys2404Glu) rs2107539392
NM_014159.7(SETD2):c.7242G>T (p.Gln2414His)
NM_014159.7(SETD2):c.7249T>C (p.Trp2417Arg)
NM_014159.7(SETD2):c.7349A>G (p.Lys2450Arg)
NM_014159.7(SETD2):c.7351-123G>A rs10510752
NM_014159.7(SETD2):c.7431+3A>T
NM_014159.7(SETD2):c.7431+67C>T rs2290547
NM_014159.7(SETD2):c.7432-4G>C
NM_014159.7(SETD2):c.7438_7439insG (p.Gln2480fs) rs1559634490
NM_014159.7(SETD2):c.7447G>T (p.Val2483Phe) rs141852778
NM_014159.7(SETD2):c.7534-1G>T rs1064795661
NM_014159.7(SETD2):c.7642A>G (p.Met2548Val)
NM_014159.7(SETD2):c.7688del (p.Glu2562_Leu2563insTer)
NM_014159.7(SETD2):c.772A>G (p.Thr258Ala)
NM_014159.7(SETD2):c.79G>C (p.Glu27Gln)
NM_014159.7(SETD2):c.889A>G (p.Lys297Glu)
NM_014159.7(SETD2):c.911A>C (p.Lys304Thr)
NM_014159.7(SETD2):c.93G>T (p.Lys31Asn) rs2106730247
NM_014159.7(SETD2):c.985C>A (p.Arg329=) rs372869995

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