ClinVar Miner

List of variants in gene SETD1B studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 248
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HGVS dbSNP gnomAD frequency
NM_001353345.2(SETD1B):c.1731C>G (p.Leu577=) rs895952 0.77335
NM_001353345.2(SETD1B):c.438C>T (p.Ile146=) rs1168666 0.71415
NM_001353345.2(SETD1B):c.4971G>A (p.Ala1657=) rs3741593 0.39713
NM_001353345.2(SETD1B):c.3587T>A (p.Val1196Glu) rs188280904 0.00139
NM_001353345.2(SETD1B):c.175-6C>T rs547750226 0.00130
NM_001353345.2(SETD1B):c.1058C>T (p.Pro353Leu) rs751321721 0.00065
NM_001353345.2(SETD1B):c.4055C>T (p.Pro1352Leu) rs192950528 0.00059
NM_001353345.2(SETD1B):c.3835G>A (p.Ala1279Thr) rs143926204 0.00008
NM_001353345.2(SETD1B):c.3584T>C (p.Met1195Thr) rs775815898 0.00007
NM_001353345.2(SETD1B):c.2211G>A (p.Pro737=) rs996821667 0.00006
NM_001353345.2(SETD1B):c.2953A>G (p.Thr985Ala) rs918413316 0.00003
NM_001353345.2(SETD1B):c.4517C>T (p.Ala1506Val) rs1462178615 0.00001
NM_001353345.2(SETD1B):c.5542G>A (p.Ala1848Thr) rs758989488 0.00001
GRCh37/hg19 12q24.31(chr12:122265641-122265976)x3
NM_001353345.2(SETD1B):c.1004C>T (p.Ala335Val)
NM_001353345.2(SETD1B):c.1013C>T (p.Ala338Val)
NM_001353345.2(SETD1B):c.1021G>A (p.Gly341Arg)
NM_001353345.2(SETD1B):c.1023G>A (p.Gly341=)
NM_001353345.2(SETD1B):c.1044_1056del (p.Ser349fs)
NM_001353345.2(SETD1B):c.1067C>T (p.Ala356Val) rs1379773028
NM_001353345.2(SETD1B):c.1071C>T (p.Val357=)
NM_001353345.2(SETD1B):c.1092C>T (p.Ser364=)
NM_001353345.2(SETD1B):c.1100C>T (p.Pro367Leu)
NM_001353345.2(SETD1B):c.1101G>A (p.Pro367=)
NM_001353345.2(SETD1B):c.1127C>T (p.Ala376Val)
NM_001353345.2(SETD1B):c.1128C>T (p.Ala376=)
NM_001353345.2(SETD1B):c.1130C>T (p.Thr377Ile)
NM_001353345.2(SETD1B):c.1152C>T (p.Pro384=)
NM_001353345.2(SETD1B):c.1168G>T (p.Ala390Ser)
NM_001353345.2(SETD1B):c.1232C>T (p.Pro411Leu)
NM_001353345.2(SETD1B):c.1257T>G (p.Ala419=)
NM_001353345.2(SETD1B):c.1263G>A (p.Gly421=)
NM_001353345.2(SETD1B):c.1268G>A (p.Arg423His)
NM_001353345.2(SETD1B):c.1341G>A (p.Lys447=)
NM_001353345.2(SETD1B):c.1356C>T (p.Pro452=)
NM_001353345.2(SETD1B):c.1371C>T (p.Pro457=)
NM_001353345.2(SETD1B):c.1371dup (p.Asp458fs) rs2137552415
NM_001353345.2(SETD1B):c.1400G>A (p.Arg467Gln)
NM_001353345.2(SETD1B):c.141_142del (p.Tyr48fs) rs2137541869
NM_001353345.2(SETD1B):c.144C>T (p.Tyr48=)
NM_001353345.2(SETD1B):c.1451C>T (p.Thr484Met)
NM_001353345.2(SETD1B):c.1461G>A (p.Ser487=)
NM_001353345.2(SETD1B):c.1478A>G (p.Glu493Gly)
NM_001353345.2(SETD1B):c.1483C>A (p.Pro495Thr) rs2137552761
NM_001353345.2(SETD1B):c.1488C>T (p.His496=)
NM_001353345.2(SETD1B):c.1495C>T (p.Leu499=)
NM_001353345.2(SETD1B):c.1502C>T (p.Ser501Leu)
NM_001353345.2(SETD1B):c.161A>G (p.His54Arg)
NM_001353345.2(SETD1B):c.1634C>G (p.Pro545Arg) rs1875982324
NM_001353345.2(SETD1B):c.1638T>G (p.Phe546Leu)
NM_001353345.2(SETD1B):c.1647C>G (p.Asn549Lys)
NM_001353345.2(SETD1B):c.1653G>C (p.Gln551His)
NM_001353345.2(SETD1B):c.1654C>T (p.Pro552Ser)
NM_001353345.2(SETD1B):c.1663C>T (p.Arg555Trp)
NM_001353345.2(SETD1B):c.1669C>T (p.Pro557Ser)
NM_001353345.2(SETD1B):c.1680C>T (p.Pro560=)
NM_001353345.2(SETD1B):c.1682C>T (p.Ser561Leu)
NM_001353345.2(SETD1B):c.1718G>A (p.Ser573Asn)
NM_001353345.2(SETD1B):c.1750G>A (p.Glu584Lys)
NM_001353345.2(SETD1B):c.1853T>C (p.Val618Ala)
NM_001353345.2(SETD1B):c.1853T>G (p.Val618Gly)
NM_001353345.2(SETD1B):c.1865C>A (p.Thr622Asn)
NM_001353345.2(SETD1B):c.1943C>G (p.Ser648Trp)
NM_001353345.2(SETD1B):c.1962T>C (p.Ala654=)
NM_001353345.2(SETD1B):c.1967G>T (p.Cys656Phe)
NM_001353345.2(SETD1B):c.202G>A (p.Val68Ile)
NM_001353345.2(SETD1B):c.2056G>C (p.Gly686Arg)
NM_001353345.2(SETD1B):c.2071C>A (p.Pro691Thr)
NM_001353345.2(SETD1B):c.2076C>A (p.Pro692=)
NM_001353345.2(SETD1B):c.2118C>G (p.Pro706=)
NM_001353345.2(SETD1B):c.2139G>A (p.Pro713=)
NM_001353345.2(SETD1B):c.2152C>G (p.Pro718Ala)
NM_001353345.2(SETD1B):c.2193A>C (p.Pro731=)
NM_001353345.2(SETD1B):c.2199G>A (p.Pro733=)
NM_001353345.2(SETD1B):c.225G>A (p.Gly75=)
NM_001353345.2(SETD1B):c.2307C>T (p.Gly769=)
NM_001353345.2(SETD1B):c.2309G>T (p.Gly770Val) rs868278683
NM_001353345.2(SETD1B):c.2328G>C (p.Gln776His) rs2137560999
NM_001353345.2(SETD1B):c.2344C>T (p.Leu782Phe)
NM_001353345.2(SETD1B):c.2372C>T (p.Ala791Val)
NM_001353345.2(SETD1B):c.23A>C (p.His8Pro)
NM_001353345.2(SETD1B):c.2403G>A (p.Ala801=)
NM_001353345.2(SETD1B):c.2448C>G (p.Pro816=)
NM_001353345.2(SETD1B):c.2455G>A (p.Gly819Ser)
NM_001353345.2(SETD1B):c.2485G>A (p.Gly829Ser)
NM_001353345.2(SETD1B):c.2489G>A (p.Arg830His)
NM_001353345.2(SETD1B):c.2508A>G (p.Pro836=)
NM_001353345.2(SETD1B):c.2511G>A (p.Leu837=)
NM_001353345.2(SETD1B):c.2526G>A (p.Pro842=)
NM_001353345.2(SETD1B):c.2535T>C (p.Pro845=)
NM_001353345.2(SETD1B):c.2536C>T (p.Pro846Ser)
NM_001353345.2(SETD1B):c.2548A>G (p.Met850Val)
NM_001353345.2(SETD1B):c.2558A>C (p.Gln853Pro)
NM_001353345.2(SETD1B):c.2566C>T (p.Pro856Ser)
NM_001353345.2(SETD1B):c.256_257delinsAA (p.Ser86Lys) rs2137542545
NM_001353345.2(SETD1B):c.2588G>A (p.Gly863Asp)
NM_001353345.2(SETD1B):c.2590G>A (p.Val864Ile)
NM_001353345.2(SETD1B):c.2645G>A (p.Arg882His)
NM_001353345.2(SETD1B):c.2672G>A (p.Arg891Gln) rs369582788
NM_001353345.2(SETD1B):c.2721G>A (p.Ser907=)
NM_001353345.2(SETD1B):c.2760C>G (p.Asp920Glu)
NM_001353345.2(SETD1B):c.2762G>A (p.Arg921Lys)
NM_001353345.2(SETD1B):c.2817C>T (p.Gly939=)
NM_001353345.2(SETD1B):c.2818_2838del (p.Glu940_Gly946del)
NM_001353345.2(SETD1B):c.2875C>T (p.Leu959=)
NM_001353345.2(SETD1B):c.2978-2A>G
NM_001353345.2(SETD1B):c.2983G>T (p.Glu995Ter)
NM_001353345.2(SETD1B):c.2986C>T (p.Arg996Ter)
NM_001353345.2(SETD1B):c.2999G>A (p.Arg1000Gln)
NM_001353345.2(SETD1B):c.3011A>G (p.Asp1004Gly)
NM_001353345.2(SETD1B):c.3017C>A (p.Pro1006His)
NM_001353345.2(SETD1B):c.3017C>G (p.Pro1006Arg)
NM_001353345.2(SETD1B):c.3019T>C (p.Cys1007Arg)
NM_001353345.2(SETD1B):c.3061C>T (p.Arg1021Trp)
NM_001353345.2(SETD1B):c.3065G>A (p.Arg1022Gln)
NM_001353345.2(SETD1B):c.306G>A (p.Pro102=)
NM_001353345.2(SETD1B):c.3074G>A (p.Arg1025Gln)
NM_001353345.2(SETD1B):c.3086T>C (p.Leu1029Pro)
NM_001353345.2(SETD1B):c.3127G>C (p.Ala1043Pro)
NM_001353345.2(SETD1B):c.3129G>A (p.Ala1043=)
NM_001353345.2(SETD1B):c.3144C>T (p.Ser1048=)
NM_001353345.2(SETD1B):c.3147G>A (p.Ala1049=)
NM_001353345.2(SETD1B):c.3153A>C (p.Ser1051=)
NM_001353345.2(SETD1B):c.3194C>T (p.Ser1065Phe)
NM_001353345.2(SETD1B):c.3203A>G (p.Glu1068Gly)
NM_001353345.2(SETD1B):c.3242A>G (p.Glu1081Gly)
NM_001353345.2(SETD1B):c.3319G>A (p.Asp1107Asn)
NM_001353345.2(SETD1B):c.332A>G (p.Asn111Ser) rs2137544206
NM_001353345.2(SETD1B):c.3358G>A (p.Asp1120Asn)
NM_001353345.2(SETD1B):c.3399C>T (p.Asp1133=)
NM_001353345.2(SETD1B):c.3418+2_3418+3del rs2137568213
NM_001353345.2(SETD1B):c.3427G>A (p.Val1143Met)
NM_001353345.2(SETD1B):c.3440C>G (p.Thr1147Ser)
NM_001353345.2(SETD1B):c.3443C>G (p.Ser1148Cys)
NM_001353345.2(SETD1B):c.3450C>G (p.Ala1150=)
NM_001353345.2(SETD1B):c.3457A>T (p.Thr1153Ser)
NM_001353345.2(SETD1B):c.3458C>T (p.Thr1153Met)
NM_001353345.2(SETD1B):c.3481T>G (p.Ser1161Ala)
NM_001353345.2(SETD1B):c.3525G>A (p.Ser1175=)
NM_001353345.2(SETD1B):c.3564_3575del (p.Glu1191_Glu1194del)
NM_001353345.2(SETD1B):c.3635A>G (p.Asp1212Gly)
NM_001353345.2(SETD1B):c.3652C>G (p.Leu1218Val)
NM_001353345.2(SETD1B):c.3680C>T (p.Ser1227Leu)
NM_001353345.2(SETD1B):c.3709G>A (p.Glu1237Lys)
NM_001353345.2(SETD1B):c.3736C>T (p.Arg1246Trp)
NM_001353345.2(SETD1B):c.3818G>T (p.Gly1273Val)
NM_001353345.2(SETD1B):c.3918C>G (p.Asp1306Glu)
NM_001353345.2(SETD1B):c.3961dup (p.Leu1321fs)
NM_001353345.2(SETD1B):c.3980C>A (p.Pro1327His) rs866437378
NM_001353345.2(SETD1B):c.3985C>T (p.Arg1329Ter) rs2137577427
NM_001353345.2(SETD1B):c.4106G>C (p.Ser1369Thr)
NM_001353345.2(SETD1B):c.4108C>G (p.Leu1370Val)
NM_001353345.2(SETD1B):c.4126A>G (p.Thr1376Ala)
NM_001353345.2(SETD1B):c.4144A>G (p.Thr1382Ala)
NM_001353345.2(SETD1B):c.4150G>C (p.Gly1384Arg)
NM_001353345.2(SETD1B):c.4164G>C (p.Pro1388=) rs937085254
NM_001353345.2(SETD1B):c.4170_4171del (p.Gly1392fs) rs2137578021
NM_001353345.2(SETD1B):c.4196G>A (p.Ser1399Asn)
NM_001353345.2(SETD1B):c.4198T>C (p.Ser1400Pro)
NM_001353345.2(SETD1B):c.4203G>A (p.Pro1401=)
NM_001353345.2(SETD1B):c.4220C>A (p.Pro1407His)
NM_001353345.2(SETD1B):c.4243C>A (p.Pro1415Thr)
NM_001353345.2(SETD1B):c.4270C>T (p.Arg1424Trp) rs1274766216
NM_001353345.2(SETD1B):c.4315C>G (p.Pro1439Ala) rs2137578401
NM_001353345.2(SETD1B):c.4334T>A (p.Leu1445Gln)
NM_001353345.2(SETD1B):c.4365C>T (p.Arg1455=)
NM_001353345.2(SETD1B):c.4367A>T (p.Asp1456Val)
NM_001353345.2(SETD1B):c.4388C>T (p.Ala1463Val)
NM_001353345.2(SETD1B):c.4433T>C (p.Leu1478Pro) rs1379233693
NM_001353345.2(SETD1B):c.4457T>C (p.Leu1486Ser) rs2137578849
NM_001353345.2(SETD1B):c.4462G>A (p.Ala1488Thr)
NM_001353345.2(SETD1B):c.4478A>G (p.Gln1493Arg)
NM_001353345.2(SETD1B):c.4490C>A (p.Pro1497His)
NM_001353345.2(SETD1B):c.4514C>A (p.Pro1505His) rs2137579112
NM_001353345.2(SETD1B):c.4522dup (p.Leu1508fs) rs1592988488
NM_001353345.2(SETD1B):c.4540C>A (p.Pro1514Thr)
NM_001353345.2(SETD1B):c.4540C>T (p.Pro1514Ser)
NM_001353345.2(SETD1B):c.4541C>T (p.Pro1514Leu)
NM_001353345.2(SETD1B):c.4556C>G (p.Pro1519Arg)
NM_001353345.2(SETD1B):c.4567C>G (p.Arg1523Gly)
NM_001353345.2(SETD1B):c.4567del (p.Arg1523fs) rs2137579387
NM_001353345.2(SETD1B):c.4570C>T (p.Arg1524Ter)
NM_001353345.2(SETD1B):c.4585A>G (p.Met1529Val)
NM_001353345.2(SETD1B):c.4592C>T (p.Ser1531Phe)
NM_001353345.2(SETD1B):c.4612C>T (p.Arg1538Ter) rs2137579544
NM_001353345.2(SETD1B):c.4613_4615del (p.Arg1538del)
NM_001353345.2(SETD1B):c.4657C>T (p.Pro1553Ser) rs2137579694
NM_001353345.2(SETD1B):c.4678G>A (p.Val1560Ile)
NM_001353345.2(SETD1B):c.4697A>G (p.Asp1566Gly)
NM_001353345.2(SETD1B):c.4712C>T (p.Thr1571Ile)
NM_001353345.2(SETD1B):c.4740A>C (p.Pro1580=)
NM_001353345.2(SETD1B):c.4749A>C (p.Pro1583=)
NM_001353345.2(SETD1B):c.4752A>C (p.Pro1584=)
NM_001353345.2(SETD1B):c.4777CCCCCACCT[1] (p.Pro1596_Pro1598del)
NM_001353345.2(SETD1B):c.4786C>A (p.Pro1596Thr)
NM_001353345.2(SETD1B):c.4802C>T (p.Pro1601Leu)
NM_001353345.2(SETD1B):c.4850C>T (p.Ala1617Val) rs1388630735
NM_001353345.2(SETD1B):c.4873C>T (p.Arg1625Cys)
NM_001353345.2(SETD1B):c.4875C>T (p.Arg1625=)
NM_001353345.2(SETD1B):c.4926G>T (p.Trp1642Cys)
NM_001353345.2(SETD1B):c.4957C>G (p.Leu1653Val) rs2137580695
NM_001353345.2(SETD1B):c.4970C>T (p.Ala1657Val)
NM_001353345.2(SETD1B):c.4977G>A (p.Ser1659=)
NM_001353345.2(SETD1B):c.4983A>G (p.Glu1661=)
NM_001353345.2(SETD1B):c.5026G>A (p.Glu1676Lys)
NM_001353345.2(SETD1B):c.5059G>A (p.Gly1687Ser)
NM_001353345.2(SETD1B):c.5072A>T (p.Glu1691Val)
NM_001353345.2(SETD1B):c.5084G>A (p.Arg1695His)
NM_001353345.2(SETD1B):c.5103C>T (p.Tyr1701=)
NM_001353345.2(SETD1B):c.5107C>T (p.Arg1703Ter)
NM_001353345.2(SETD1B):c.5242C>T (p.Arg1748Cys)
NM_001353345.2(SETD1B):c.5374C>A (p.Arg1792=)
NM_001353345.2(SETD1B):c.5375G>A (p.Arg1792Gln) rs2137588997
NM_001353345.2(SETD1B):c.5392C>T (p.Arg1798Cys) rs2137589027
NM_001353345.2(SETD1B):c.5403del (p.Gln1801fs)
NM_001353345.2(SETD1B):c.5473C>T (p.Arg1825Trp)
NM_001353345.2(SETD1B):c.5476A>C (p.Lys1826Gln)
NM_001353345.2(SETD1B):c.5484G>C (p.Lys1828Asn)
NM_001353345.2(SETD1B):c.5487C>T (p.Leu1829=)
NM_001353345.2(SETD1B):c.5526C>T (p.Phe1842=)
NM_001353345.2(SETD1B):c.5530A>G (p.Met1844Val)
NM_001353345.2(SETD1B):c.5551G>A (p.Glu1851Lys)
NM_001353345.2(SETD1B):c.5568C>T (p.Tyr1856=)
NM_001353345.2(SETD1B):c.5623G>A (p.Asp1875Asn)
NM_001353345.2(SETD1B):c.5654G>A (p.Arg1885Gln)
NM_001353345.2(SETD1B):c.5692G>A (p.Gly1898Ser)
NM_001353345.2(SETD1B):c.5704C>T (p.Arg1902Cys) rs1876922399
NM_001353345.2(SETD1B):c.5705G>A (p.Arg1902His)
NM_001353345.2(SETD1B):c.5824_5829del (p.Asp1942_Tyr1943del) rs1877025777
NM_001353345.2(SETD1B):c.5828A>G (p.Tyr1943Cys) rs1877026008
NM_001353345.2(SETD1B):c.5842G>A (p.Glu1948Lys) rs2137594297
NM_001353345.2(SETD1B):c.5853G>A (p.Lys1951=)
NM_001353345.2(SETD1B):c.5856C>T (p.Ile1952=)
NM_001353345.2(SETD1B):c.5863C>T (p.Leu1955Phe)
NM_001353345.2(SETD1B):c.5882G>A (p.Cys1961Tyr)
NM_001353345.2(SETD1B):c.5884C>T (p.Arg1962Trp)
NM_001353345.2(SETD1B):c.597C>A (p.Pro199=)
NM_001353345.2(SETD1B):c.679C>T (p.Leu227Phe)
NM_001353345.2(SETD1B):c.725C>G (p.Ser242Cys)
NM_001353345.2(SETD1B):c.731C>A (p.Thr244Asn) rs1220942444
NM_001353345.2(SETD1B):c.756C>G (p.Phe252Leu)
NM_001353345.2(SETD1B):c.770C>T (p.Ala257Val)
NM_001353345.2(SETD1B):c.902G>A (p.Ser301Asn)
NM_001353345.2(SETD1B):c.925A>C (p.Lys309Gln)
NM_001353345.2(SETD1B):c.955_958dup (p.Ala320fs) rs1875933090
NM_001353345.2(SETD1B):c.960C>A (p.Ala320=)
NM_001353345.2(SETD1B):c.971G>T (p.Arg324Leu)
NM_001353345.2(SETD1B):c.976G>A (p.Glu326Lys)

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