ClinVar Miner

List of variants reported as likely benign for Luscan-Lumish syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 281
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014159.7(SETD2):c.2302G>C (p.Val768Leu) rs9311404 0.00182
NM_014159.7(SETD2):c.6109A>G (p.Thr2037Ala) rs113798770 0.00110
NM_014159.7(SETD2):c.3229A>G (p.Thr1077Ala) rs114719990 0.00095
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.5666T>C (p.Met1889Thr) rs148097513 0.00068
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.6066A>G (p.Val2022=) rs149499141 0.00047
NM_014159.7(SETD2):c.7164C>T (p.Thr2388=) rs144752494 0.00047
NM_014159.7(SETD2):c.6885A>G (p.Ile2295Met) rs150476239 0.00046
NM_014159.7(SETD2):c.1734A>T (p.Leu578Phe) rs138401612 0.00038
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.1579A>G (p.Ile527Val) rs373069098 0.00033
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.590C>T (p.Ala197Val) rs374950143 0.00029
NM_014159.7(SETD2):c.6768C>T (p.Val2256=) rs147243526 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.19C>T (p.Gln7Ter) rs541943893 0.00023
NM_014159.7(SETD2):c.2096A>G (p.Asp699Gly) rs368132877 0.00022
NM_014159.7(SETD2):c.3897C>T (p.Tyr1299=) rs150036725 0.00022
NM_014159.7(SETD2):c.5649T>C (p.Ile1883=) rs141881457 0.00022
NM_014159.7(SETD2):c.7071A>G (p.Ala2357=) rs140288461 0.00022
NM_014159.7(SETD2):c.7101T>G (p.Ser2367=) rs149025565 0.00022
NM_014159.7(SETD2):c.1297C>T (p.Arg433Cys) rs528110877 0.00016
NM_014159.7(SETD2):c.5316A>G (p.Glu1772=) rs141027201 0.00014
NM_014159.7(SETD2):c.7432-10C>T rs374312905 0.00014
NM_014159.7(SETD2):c.2730A>G (p.Ala910=) rs377041426 0.00013
NM_014159.7(SETD2):c.558G>A (p.Pro186=) rs183095591 0.00012
NM_014159.7(SETD2):c.1180T>C (p.Cys394Arg) rs368465960 0.00010
NM_014159.7(SETD2):c.1404A>G (p.Thr468=) rs368082274 0.00010
NM_014159.7(SETD2):c.1903A>G (p.Ile635Val) rs147609782 0.00009
NM_014159.7(SETD2):c.263T>A (p.Phe88Tyr) rs770312954 0.00009
NM_014159.7(SETD2):c.6180A>G (p.Ser2060=) rs140252916 0.00009
NM_014159.7(SETD2):c.7261A>G (p.Thr2421Ala) rs76132393 0.00009
NM_014159.7(SETD2):c.148G>A (p.Ala50Thr) rs191985301 0.00008
NM_014159.7(SETD2):c.6306A>G (p.Pro2102=) rs539146125 0.00008
NM_014159.7(SETD2):c.1200A>G (p.Arg400=) rs201148347 0.00007
NM_014159.7(SETD2):c.1938T>C (p.His646=) rs369288116 0.00007
NM_014159.7(SETD2):c.2283G>A (p.Met761Ile) rs188887061 0.00007
NM_014159.7(SETD2):c.6999G>A (p.Gly2333=) rs749235253 0.00007
NM_014159.7(SETD2):c.1407C>T (p.Tyr469=) rs770493452 0.00006
NM_014159.7(SETD2):c.3276A>G (p.Gln1092=) rs114327122 0.00006
NM_014159.7(SETD2):c.3975A>G (p.Gly1325=) rs775604042 0.00006
NM_014159.7(SETD2):c.5364C>T (p.Asp1788=) rs148618471 0.00006
NM_014159.7(SETD2):c.6606T>G (p.Pro2202=) rs535130915 0.00006
NM_014159.7(SETD2):c.7137G>A (p.Pro2379=) rs768154988 0.00006
NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp) rs115859828 0.00005
NM_014159.7(SETD2):c.2394C>T (p.Asn798=) rs115016437 0.00005
NM_014159.7(SETD2):c.393C>T (p.Ser131=) rs556549304 0.00005
NM_014159.7(SETD2):c.1008A>C (p.Ser336=) rs764441172 0.00004
NM_014159.7(SETD2):c.1425T>C (p.Ser475=) rs768620219 0.00004
NM_014159.7(SETD2):c.310C>A (p.Pro104Thr) rs539506462 0.00004
NM_014159.7(SETD2):c.5057G>A (p.Arg1686Gln) rs367601805 0.00004
NM_014159.7(SETD2):c.6293+10C>T rs373591866 0.00004
NM_014159.7(SETD2):c.6964-9A>G rs964769481 0.00004
NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu) rs775780402 0.00004
NM_014159.7(SETD2):c.7464T>A (p.Pro2488=) rs895374808 0.00004
NM_014159.7(SETD2):c.798C>T (p.His266=) rs375614739 0.00004
NM_014159.7(SETD2):c.1149T>C (p.Leu383=) rs776053769 0.00003
NM_014159.7(SETD2):c.1914C>T (p.Ser638=) rs1371836213 0.00003
NM_014159.7(SETD2):c.2040A>G (p.Glu680=) rs374447180 0.00003
NM_014159.7(SETD2):c.2106G>A (p.Val702=) rs1292129571 0.00003
NM_014159.7(SETD2):c.2700C>T (p.Cys900=) rs370480746 0.00003
NM_014159.7(SETD2):c.2712A>G (p.Thr904=) rs759642122 0.00003
NM_014159.7(SETD2):c.3300T>C (p.His1100=) rs368080733 0.00003
NM_014159.7(SETD2):c.336G>A (p.Ser112=) rs965088151 0.00003
NM_014159.7(SETD2):c.3390G>A (p.Lys1130=) rs773475708 0.00003
NM_014159.7(SETD2):c.4989G>A (p.Thr1663=) rs148325978 0.00003
NM_014159.7(SETD2):c.6240C>G (p.Ser2080=) rs577861724 0.00003
NM_014159.7(SETD2):c.6447A>G (p.Pro2149=) rs747454617 0.00003
NM_014159.7(SETD2):c.71+10A>G rs776271538 0.00003
NM_014159.7(SETD2):c.7143C>G (p.Pro2381=) rs771580579 0.00003
NM_014159.7(SETD2):c.1287C>T (p.Asp429=) rs989628930 0.00002
NM_014159.7(SETD2):c.2988A>G (p.Ser996=) rs772906890 0.00002
NM_014159.7(SETD2):c.3237C>T (p.Pro1079=) rs754761739 0.00002
NM_014159.7(SETD2):c.3843T>C (p.Cys1281=) rs375236917 0.00002
NM_014159.7(SETD2):c.4586+12A>G rs1371359974 0.00002
NM_014159.7(SETD2):c.606C>G (p.Leu202=) rs773519273 0.00002
NM_014159.7(SETD2):c.6461C>G (p.Ser2154Cys) rs772107314 0.00002
NM_014159.7(SETD2):c.7098+10G>A rs776056138 0.00002
NM_014159.7(SETD2):c.7239-8C>T rs375557161 0.00002
NM_014159.7(SETD2):c.7305T>C (p.Ala2435=) rs140828600 0.00002
NM_014159.7(SETD2):c.7374A>G (p.Ala2458=) rs775487978 0.00002
NM_014159.7(SETD2):c.1011T>C (p.His337=) rs769297861 0.00001
NM_014159.7(SETD2):c.1199G>A (p.Arg400Gln) rs1186063799 0.00001
NM_014159.7(SETD2):c.1263G>A (p.Arg421=) rs915441021 0.00001
NM_014159.7(SETD2):c.1331C>T (p.Thr444Met) rs1030309071 0.00001
NM_014159.7(SETD2):c.1478G>A (p.Arg493Gln) rs757035494 0.00001
NM_014159.7(SETD2):c.1632A>G (p.Ser544=) rs773360536 0.00001
NM_014159.7(SETD2):c.1732T>C (p.Leu578=) rs942266422 0.00001
NM_014159.7(SETD2):c.1849C>T (p.Pro617Ser) rs372521251 0.00001
NM_014159.7(SETD2):c.2133C>G (p.Val711=) rs749379736 0.00001
NM_014159.7(SETD2):c.2214G>A (p.Leu738=) rs548377659 0.00001
NM_014159.7(SETD2):c.2435T>C (p.Ile812Thr) rs537620848 0.00001
NM_014159.7(SETD2):c.2541T>C (p.Phe847=) rs750799970 0.00001
NM_014159.7(SETD2):c.2610A>G (p.Leu870=) rs1184838235 0.00001
NM_014159.7(SETD2):c.2997A>G (p.Val999=) rs1387514420 0.00001
NM_014159.7(SETD2):c.3135A>G (p.Ser1045=) rs2043086224 0.00001
NM_014159.7(SETD2):c.3282T>C (p.Tyr1094=) rs774952312 0.00001
NM_014159.7(SETD2):c.3324A>G (p.Ser1108=) rs763701176 0.00001
NM_014159.7(SETD2):c.3621T>C (p.Ser1207=) rs577048438 0.00001
NM_014159.7(SETD2):c.3677C>T (p.Pro1226Leu) rs776766535 0.00001
NM_014159.7(SETD2):c.3735T>C (p.His1245=) rs1575811464 0.00001
NM_014159.7(SETD2):c.3833A>G (p.Tyr1278Cys) rs778158607 0.00001
NM_014159.7(SETD2):c.3957G>C (p.Val1319=) rs753613907 0.00001
NM_014159.7(SETD2):c.4608G>A (p.Gly1536=) rs374824848 0.00001
NM_014159.7(SETD2):c.5016-15A>G rs760067058 0.00001
NM_014159.7(SETD2):c.5025C>T (p.Ala1675=) rs1293494337 0.00001
NM_014159.7(SETD2):c.5122C>A (p.Arg1708=) rs774671060 0.00001
NM_014159.7(SETD2):c.516A>G (p.Pro172=) rs1323241774 0.00001
NM_014159.7(SETD2):c.5373A>G (p.Glu1791=) rs1158364422 0.00001
NM_014159.7(SETD2):c.5544A>G (p.Thr1848=) rs770995434 0.00001
NM_014159.7(SETD2):c.561C>G (p.Pro187=) rs1553701917 0.00001
NM_014159.7(SETD2):c.5626C>T (p.Leu1876=) rs191022158 0.00001
NM_014159.7(SETD2):c.5775A>C (p.Ser1925=) rs905089474 0.00001
NM_014159.7(SETD2):c.5987A>G (p.Gln1996Arg) rs748068732 0.00001
NM_014159.7(SETD2):c.5999A>G (p.Asp2000Gly) rs139064872 0.00001
NM_014159.7(SETD2):c.609A>C (p.Ser203=) rs1356881725 0.00001
NM_014159.7(SETD2):c.624A>G (p.Val208=) rs1174715079 0.00001
NM_014159.7(SETD2):c.6354A>G (p.Thr2118=) rs759326574 0.00001
NM_014159.7(SETD2):c.636G>A (p.Val212=) rs2043219442 0.00001
NM_014159.7(SETD2):c.6384G>A (p.Glu2128=) rs958559712 0.00001
NM_014159.7(SETD2):c.6414G>A (p.Gln2138=) rs776824718 0.00001
NM_014159.7(SETD2):c.6525C>T (p.Ala2175=) rs1482489476 0.00001
NM_014159.7(SETD2):c.6642A>G (p.Thr2214=) rs934104750 0.00001
NM_014159.7(SETD2):c.6726C>T (p.Ala2242=) rs764822620 0.00001
NM_014159.7(SETD2):c.6747C>T (p.His2249=) rs1292161591 0.00001
NM_014159.7(SETD2):c.6780G>A (p.Pro2260=) rs774896853 0.00001
NM_014159.7(SETD2):c.6789C>T (p.Gly2263=) rs1364956563 0.00001
NM_014159.7(SETD2):c.6840C>T (p.Val2280=) rs745791498 0.00001
NM_014159.7(SETD2):c.7093C>G (p.Gln2365Glu) rs894915057 0.00001
NM_014159.7(SETD2):c.7332T>C (p.Tyr2444=) rs1270169187 0.00001
NM_014159.7(SETD2):c.7351-4T>G rs776986628 0.00001
NM_014159.7(SETD2):c.7446C>T (p.Ile2482=) rs1221536539 0.00001
NM_014159.7(SETD2):c.840A>G (p.Lys280=) rs932103061 0.00001
NM_014159.7(SETD2):c.915A>G (p.Thr305=) rs989764457 0.00001
NM_014159.7(SETD2):c.1194A>G (p.Arg398=) rs1387872740
NM_014159.7(SETD2):c.1248T>C (p.Asn416=) rs1026910604
NM_014159.7(SETD2):c.1275T>G (p.Ser425=)
NM_014159.7(SETD2):c.1337A>G (p.Tyr446Cys) rs1575817748
NM_014159.7(SETD2):c.1344G>A (p.Arg448=) rs775613201
NM_014159.7(SETD2):c.1347A>G (p.Pro449=)
NM_014159.7(SETD2):c.1401G>A (p.Lys467=) rs2106698781
NM_014159.7(SETD2):c.1414C>T (p.Arg472Cys) rs771203643
NM_014159.7(SETD2):c.14AGCCGC[3] (p.5QP[3]) rs779757186
NM_014159.7(SETD2):c.1540C>A (p.Leu514Ile)
NM_014159.7(SETD2):c.1557A>G (p.Lys519=)
NM_014159.7(SETD2):c.1589GTT[1] (p.Cys531del) rs773040363
NM_014159.7(SETD2):c.1622G>C (p.Arg541Pro) rs144677816
NM_014159.7(SETD2):c.1833G>A (p.Lys611=) rs575862721
NM_014159.7(SETD2):c.1866T>C (p.Asn622=)
NM_014159.7(SETD2):c.1875T>G (p.Pro625=)
NM_014159.7(SETD2):c.1961C>G (p.Ser654Cys) rs2043148992
NM_014159.7(SETD2):c.2016T>C (p.Asn672=) rs2106683127
NM_014159.7(SETD2):c.204G>A (p.Gln68=)
NM_014159.7(SETD2):c.2083T>C (p.Leu695=) rs2106681462
NM_014159.7(SETD2):c.2100T>C (p.Asp700=) rs775142324
NM_014159.7(SETD2):c.2139A>T (p.Ala713=) rs753222651
NM_014159.7(SETD2):c.2151A>C (p.Ser717=) rs758155750
NM_014159.7(SETD2):c.2193C>T (p.Asp731=) rs763544216
NM_014159.7(SETD2):c.2202T>C (p.Asp734=) rs2106678301
NM_014159.7(SETD2):c.2403C>T (p.Asn801=) rs200127446
NM_014159.7(SETD2):c.2505A>T (p.Ile835=) rs2106670065
NM_014159.7(SETD2):c.2568C>A (p.Ile856=)
NM_014159.7(SETD2):c.2568C>T (p.Ile856=) rs775705122
NM_014159.7(SETD2):c.2730A>T (p.Ala910=) rs377041426
NM_014159.7(SETD2):c.2823G>A (p.Lys941=) rs766558333
NM_014159.7(SETD2):c.2964A>G (p.Gly988=)
NM_014159.7(SETD2):c.2985C>T (p.Asp995=) rs1435057121
NM_014159.7(SETD2):c.2T>A (p.Met1Lys) rs1221828308
NM_014159.7(SETD2):c.3012T>C (p.Asp1004=) rs1458676359
NM_014159.7(SETD2):c.3063T>C (p.Cys1021=) rs780433204
NM_014159.7(SETD2):c.3309T>C (p.Asp1103=) rs1308698174
NM_014159.7(SETD2):c.3342G>A (p.Glu1114=) rs2106645168
NM_014159.7(SETD2):c.33G>C (p.Lys11Asn) rs1575863434
NM_014159.7(SETD2):c.342T>C (p.Pro114=) rs2106724621
NM_014159.7(SETD2):c.3450A>G (p.Arg1150=)
NM_014159.7(SETD2):c.3519T>C (p.His1173=)
NM_014159.7(SETD2):c.3591G>A (p.Arg1197=)
NM_014159.7(SETD2):c.3601G>C (p.Glu1201Gln) rs749181159
NM_014159.7(SETD2):c.3765C>T (p.Leu1255=) rs2107746911
NM_014159.7(SETD2):c.3789T>A (p.Ser1263=)
NM_014159.7(SETD2):c.3836G>A (p.Gly1279Glu) rs756174508
NM_014159.7(SETD2):c.3919G>T (p.Asp1307Tyr) rs2043042135
NM_014159.7(SETD2):c.397C>A (p.Pro133Thr)
NM_014159.7(SETD2):c.3981A>G (p.Val1327=) rs1014766623
NM_014159.7(SETD2):c.3996A>G (p.Thr1332=) rs2107744096
NM_014159.7(SETD2):c.4124A>G (p.Asn1375Ser) rs1348411642
NM_014159.7(SETD2):c.4227G>A (p.Gln1409=)
NM_014159.7(SETD2):c.4250G>T (p.Ser1417Ile) rs762132169
NM_014159.7(SETD2):c.4302A>T (p.Gly1434=)
NM_014159.7(SETD2):c.4320A>C (p.Pro1440=) rs74485823
NM_014159.7(SETD2):c.4362C>G (p.Phe1454Leu)
NM_014159.7(SETD2):c.436A>C (p.Lys146Gln) rs1451896896
NM_014159.7(SETD2):c.4383G>A (p.Lys1461=) rs2107739543
NM_014159.7(SETD2):c.4425T>G (p.Leu1475=) rs1575809641
NM_014159.7(SETD2):c.4454+10A>G
NM_014159.7(SETD2):c.4545A>T (p.Ala1515=) rs1352258634
NM_014159.7(SETD2):c.4586+20C>T
NM_014159.7(SETD2):c.4587-17T>G
NM_014159.7(SETD2):c.4587-7A>G
NM_014159.7(SETD2):c.4590T>C (p.Ser1530=) rs2107720061
NM_014159.7(SETD2):c.4715C>T (p.Ser1572Leu) rs750924110
NM_014159.7(SETD2):c.4734A>G (p.Glu1578=) rs761384846
NM_014159.7(SETD2):c.4752C>T (p.Leu1584=) rs992061474
NM_014159.7(SETD2):c.4857A>G (p.Gln1619=)
NM_014159.7(SETD2):c.4917+19A>G
NM_014159.7(SETD2):c.4930G>A (p.Gly1644Arg) rs2042210578
NM_014159.7(SETD2):c.4989G>T (p.Thr1663=) rs148325978
NM_014159.7(SETD2):c.5016-17C>G
NM_014159.7(SETD2):c.5016-7T>C rs2107674949
NM_014159.7(SETD2):c.5085C>T (p.Val1695=)
NM_014159.7(SETD2):c.5150G>A (p.Gly1717Glu) rs2041647091
NM_014159.7(SETD2):c.5154G>A (p.Glu1718=) rs2107651807
NM_014159.7(SETD2):c.5181G>A (p.Glu1727=) rs2107651578
NM_014159.7(SETD2):c.5217C>T (p.Ser1739=) rs1553691527
NM_014159.7(SETD2):c.5277+11T>C
NM_014159.7(SETD2):c.5277+16T>C
NM_014159.7(SETD2):c.5278-11C>T
NM_014159.7(SETD2):c.5278-12C>T rs2041555721
NM_014159.7(SETD2):c.5369G>C (p.Arg1790Pro) rs376246790
NM_014159.7(SETD2):c.537A>G (p.Glu179=) rs1299316630
NM_014159.7(SETD2):c.5397+10C>T rs1451599825
NM_014159.7(SETD2):c.5397+19T>C
NM_014159.7(SETD2):c.543A>C (p.Thr181=) rs2106719824
NM_014159.7(SETD2):c.5478C>T (p.Arg1826=) rs557527064
NM_014159.7(SETD2):c.5505T>C (p.Pro1835=) rs1553690489
NM_014159.7(SETD2):c.5510T>C (p.Leu1837Ser) rs1196664039
NM_014159.7(SETD2):c.5547G>T (p.Ser1849=) rs750812600
NM_014159.7(SETD2):c.5596A>G (p.Thr1866Ala) rs539289124
NM_014159.7(SETD2):c.5682T>C (p.Ser1894=) rs1553690398
NM_014159.7(SETD2):c.569C>T (p.Pro190Leu)
NM_014159.7(SETD2):c.5760G>A (p.Glu1920=)
NM_014159.7(SETD2):c.5823A>G (p.Glu1941=) rs2041429385
NM_014159.7(SETD2):c.588T>G (p.Pro196=) rs1575819621
NM_014159.7(SETD2):c.6019G>A (p.Asp2007Asn) rs2041417331
NM_014159.7(SETD2):c.6061-11A>T
NM_014159.7(SETD2):c.6121G>A (p.Gly2041Arg) rs2040370171
NM_014159.7(SETD2):c.6156T>C (p.Pro2052=)
NM_014159.7(SETD2):c.6267G>A (p.Glu2089=)
NM_014159.7(SETD2):c.6293+10C>A rs373591866
NM_014159.7(SETD2):c.6293+4dup rs533328208
NM_014159.7(SETD2):c.6293+9C>T rs2040360525
NM_014159.7(SETD2):c.6294-4C>G rs2107578429
NM_014159.7(SETD2):c.6310T>G (p.Ser2104Ala) rs2107578285
NM_014159.7(SETD2):c.6313A>G (p.Lys2105Glu) rs2107578243
NM_014159.7(SETD2):c.6387G>A (p.Val2129=) rs2107577585
NM_014159.7(SETD2):c.6708C>T (p.Ser2236=) rs2107575689
NM_014159.7(SETD2):c.6710G>T (p.Ser2237Ile)
NM_014159.7(SETD2):c.676C>G (p.Pro226Ala) rs780963440
NM_014159.7(SETD2):c.6942G>A (p.Gln2314=)
NM_014159.7(SETD2):c.6963+20_6963+21del rs774526153
NM_014159.7(SETD2):c.6964-19T>G rs776968785
NM_014159.7(SETD2):c.6969T>C (p.Tyr2323=) rs2039543267
NM_014159.7(SETD2):c.696T>C (p.Asp232=) rs918283160
NM_014159.7(SETD2):c.7083T>A (p.Pro2361=)
NM_014159.7(SETD2):c.7099-5T>C rs1575676472
NM_014159.7(SETD2):c.71+20C>A
NM_014159.7(SETD2):c.7101T>C (p.Ser2367=)
NM_014159.7(SETD2):c.7143C>T (p.Pro2381=)
NM_014159.7(SETD2):c.7238+7G>A rs1575676238
NM_014159.7(SETD2):c.7290C>T (p.Ser2430=)
NM_014159.7(SETD2):c.7467C>T (p.Tyr2489=)
NM_014159.7(SETD2):c.746C>T (p.Ser249Phe)
NM_014159.7(SETD2):c.7515T>C (p.Phe2505=)
NM_014159.7(SETD2):c.7602G>A (p.Glu2534=)
NM_014159.7(SETD2):c.7608G>A (p.Val2536=) rs902794659
NM_014159.7(SETD2):c.7625A>C (p.Glu2542Ala) rs368761115
NM_014159.7(SETD2):c.7649A>C (p.Lys2550Thr)
NM_014159.7(SETD2):c.7682C>T (p.Thr2561Ile) rs2107484397
NM_014159.7(SETD2):c.87+16C>G
NM_014159.7(SETD2):c.88-18T>C
NM_014159.7(SETD2):c.985C>T (p.Arg329Trp) rs372869995
NM_014159.7(SETD2):c.989C>A (p.Thr330Asn) rs2043200364
NM_014159.7(SETD2):c.993T>C (p.Ser331=) rs1200564837
NM_014159.7(SETD2):c.996A>G (p.Ser332=)

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