ClinVar Miner

List of variants studied for Luscan-Lumish syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 165
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HGVS dbSNP
NM_014159.6(SETD2):c.1049A>T (p.Asp350Val)
NM_014159.6(SETD2):c.1103G>A (p.Arg368Gln) rs1385695873
NM_014159.6(SETD2):c.1211G>C (p.Arg404Thr)
NM_014159.6(SETD2):c.1334G>T (p.Arg445Leu)
NM_014159.6(SETD2):c.1337A>C (p.Tyr446Ser)
NM_014159.6(SETD2):c.1414C>T (p.Arg472Cys)
NM_014159.6(SETD2):c.1457C>T (p.Ser486Leu) rs1559748168
NM_014159.6(SETD2):c.1477C>T (p.Arg493Trp) rs778693117
NM_014159.6(SETD2):c.148G>A (p.Ala50Thr) rs191985301
NM_014159.6(SETD2):c.1579A>G (p.Ile527Val) rs373069098
NM_014159.6(SETD2):c.1580T>C (p.Ile527Thr)
NM_014159.6(SETD2):c.1610T>G (p.Leu537Arg) rs753117350
NM_014159.6(SETD2):c.1664A>C (p.Tyr555Ser)
NM_014159.6(SETD2):c.1687A>G (p.Ile563Val) rs587778668
NM_014159.6(SETD2):c.1734A>T (p.Leu578Phe) rs138401612
NM_014159.6(SETD2):c.1775C>A (p.Thr592Lys) rs115569620
NM_014159.6(SETD2):c.1833G>T (p.Lys611Asn)
NM_014159.6(SETD2):c.1885A>G (p.Lys629Glu) rs145650484
NM_014159.6(SETD2):c.1928A>G (p.His643Arg) rs776293901
NM_014159.6(SETD2):c.19C>T (p.Gln7Ter) rs541943893
NM_014159.6(SETD2):c.2008G>A (p.Glu670Lys)
NM_014159.6(SETD2):c.2028del (p.Pro677fs) rs869025572
NM_014159.6(SETD2):c.2032G>A (p.Gly678Arg)
NM_014159.6(SETD2):c.2040A>G (p.Glu680=) rs374447180
NM_014159.6(SETD2):c.2072C>T (p.Thr691Ile)
NM_014159.6(SETD2):c.2100T>C (p.Asp700=)
NM_014159.6(SETD2):c.2113T>G (p.Ser705Ala)
NM_014159.6(SETD2):c.2155A>G (p.Asn719Asp) rs115859828
NM_014159.6(SETD2):c.2224T>G (p.Ser742Ala) rs774644234
NM_014159.6(SETD2):c.2251C>A (p.Pro751Thr) rs115788094
NM_014159.6(SETD2):c.2294T>G (p.Val765Gly) rs1325359308
NM_014159.6(SETD2):c.2299A>G (p.Thr767Ala) rs564476604
NM_014159.6(SETD2):c.2302G>C (p.Val768Leu) rs9311404
NM_014159.6(SETD2):c.2402A>G (p.Asn801Ser) rs1241448462
NM_014159.6(SETD2):c.2450T>C (p.Met817Thr) rs115023083
NM_014159.6(SETD2):c.2452A>C (p.Lys818Gln)
NM_014159.6(SETD2):c.2507G>A (p.Cys836Tyr) rs1559745772
NM_014159.6(SETD2):c.2515A>G (p.Arg839Gly) rs1441287639
NM_014159.6(SETD2):c.2543C>T (p.Ala848Val) rs75248784
NM_014159.6(SETD2):c.2546G>T (p.Cys849Phe)
NM_014159.6(SETD2):c.2610A>G (p.Leu870=) rs1184838235
NM_014159.6(SETD2):c.2647C>T (p.Leu883Phe) rs1269748231
NM_014159.6(SETD2):c.26C>T (p.Pro9Leu) rs1553707534
NM_014159.6(SETD2):c.2702G>C (p.Gly901Ala) rs1194240525
NM_014159.6(SETD2):c.2704G>C (p.Glu902Gln) rs58906143
NM_014159.6(SETD2):c.2712A>G (p.Thr904=) rs759642122
NM_014159.6(SETD2):c.2730A>G (p.Ala910=) rs377041426
NM_014159.6(SETD2):c.2730A>T (p.Ala910=) rs377041426
NM_014159.6(SETD2):c.2776A>G (p.Lys926Glu) rs1167396235
NM_014159.6(SETD2):c.2783C>G (p.Thr928Arg) rs72895708
NM_014159.6(SETD2):c.2794G>A (p.Val932Ile) rs141532143
NM_014159.6(SETD2):c.2819G>T (p.Gly940Val)
NM_014159.6(SETD2):c.2822A>G (p.Lys941Arg) rs1398213134
NM_014159.6(SETD2):c.2894A>G (p.Glu965Gly)
NM_014159.6(SETD2):c.2942T>C (p.Leu981Ser) rs200569407
NM_014159.6(SETD2):c.2956G>A (p.Glu986Lys)
NM_014159.6(SETD2):c.2959G>A (p.Gly987Arg) rs759593227
NM_014159.6(SETD2):c.2988A>G (p.Ser996=) rs772906890
NM_014159.6(SETD2):c.2T>A (p.Met1Lys)
NM_014159.6(SETD2):c.3097A>G (p.Thr1033Ala) rs145759179
NM_014159.6(SETD2):c.310C>A (p.Pro104Thr) rs539506462
NM_014159.6(SETD2):c.3131G>A (p.Ser1044Asn) rs587778673
NM_014159.6(SETD2):c.3176G>A (p.Ser1059Asn) rs558262802
NM_014159.6(SETD2):c.3193C>T (p.Arg1065Cys)
NM_014159.6(SETD2):c.3229A>G (p.Thr1077Ala) rs114719990
NM_014159.6(SETD2):c.3249A>C (p.Thr1083=) rs80241480
NM_014159.6(SETD2):c.3251G>A (p.Ser1084Asn)
NM_014159.6(SETD2):c.3266G>A (p.Arg1089Gln)
NM_014159.6(SETD2):c.3282T>C (p.Tyr1094=) rs774952312
NM_014159.6(SETD2):c.3309T>C (p.Asp1103=) rs1308698174
NM_014159.6(SETD2):c.335C>T (p.Ser112Leu) rs187767340
NM_014159.6(SETD2):c.3361G>A (p.Ala1121Thr) rs1336548478
NM_014159.6(SETD2):c.336G>A (p.Ser112=) rs965088151
NM_014159.6(SETD2):c.3371C>T (p.Ala1124Val) rs538871720
NM_014159.6(SETD2):c.3390G>A (p.Lys1130=) rs773475708
NM_014159.6(SETD2):c.3422C>T (p.Pro1141Leu) rs142723093
NM_014159.6(SETD2):c.3484C>T (p.His1162Tyr) rs137871492
NM_014159.6(SETD2):c.3567C>T (p.Thr1189=) rs140803915
NM_014159.6(SETD2):c.3572A>G (p.Lys1191Arg) rs1559742980
NM_014159.6(SETD2):c.3580A>G (p.Ile1194Val)
NM_014159.6(SETD2):c.3582A>G (p.Ile1194Met) rs1211620525
NM_014159.6(SETD2):c.3593A>G (p.Gln1198Arg)
NM_014159.6(SETD2):c.3691G>A (p.Gly1231Arg)
NM_014159.6(SETD2):c.3769A>T (p.Asn1257Tyr)
NM_014159.6(SETD2):c.3850C>A (p.His1284Asn) rs1387669118
NM_014159.6(SETD2):c.3897C>T (p.Tyr1299=) rs150036725
NM_014159.6(SETD2):c.3967A>C (p.Thr1323Pro)
NM_014159.6(SETD2):c.3991C>G (p.Leu1331Val)
NM_014159.6(SETD2):c.4011A>G (p.Glu1337=) rs115927459
NM_014159.6(SETD2):c.4027C>A (p.Gln1343Lys) rs781672875
NM_014159.6(SETD2):c.4059C>T (p.Ser1353=) rs113560046
NM_014159.6(SETD2):c.4091A>G (p.Lys1364Arg) rs1559741577
NM_014159.6(SETD2):c.4093G>A (p.Gly1365Arg) rs772882978
NM_014159.6(SETD2):c.4121G>A (p.Ser1374Asn) rs762222123
NM_014159.6(SETD2):c.4320A>T (p.Pro1440=) rs74485823
NM_014159.6(SETD2):c.4344C>G (p.Ser1448=) rs992969331
NM_014159.6(SETD2):c.4487G>A (p.Arg1496Gln) rs1553699111
NM_014159.6(SETD2):c.475A>G (p.Thr159Ala) rs369333306
NM_014159.6(SETD2):c.4872T>A (p.Ser1624=) rs75763513
NM_014159.6(SETD2):c.4928A>G (p.Asn1643Ser) rs1553694843
NM_014159.6(SETD2):c.4989G>A (p.Thr1663=) rs148325978
NM_014159.6(SETD2):c.4997A>G (p.Tyr1666Cys) rs1559720382
NM_014159.6(SETD2):c.500C>T (p.Pro167Leu) rs78682369
NM_014159.6(SETD2):c.5142A>G (p.Ser1714=)
NM_014159.6(SETD2):c.5202G>C (p.Gln1734His)
NM_014159.6(SETD2):c.5217C>T (p.Ser1739=) rs1553691527
NM_014159.6(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014159.6(SETD2):c.5271C>T (p.Leu1757=) rs144825663
NM_014159.6(SETD2):c.5317C>T (p.Arg1773Cys)
NM_014159.6(SETD2):c.5364C>T (p.Asp1788=) rs148618471
NM_014159.6(SETD2):c.538T>G (p.Ser180Ala) rs1318754770
NM_014159.6(SETD2):c.5444T>G (p.Leu1815Trp) rs869025570
NM_014159.6(SETD2):c.5505T>C (p.Pro1835=) rs1553690489
NM_014159.6(SETD2):c.5524G>A (p.Gly1842Arg)
NM_014159.6(SETD2):c.5542A>G (p.Thr1848Ala)
NM_014159.6(SETD2):c.5561C>T (p.Pro1854Leu) rs1559701896
NM_014159.6(SETD2):c.557C>T (p.Pro186Leu) rs78759480
NM_014159.6(SETD2):c.558G>A (p.Pro186=) rs183095591
NM_014159.6(SETD2):c.561C>G (p.Pro187=) rs1553701917
NM_014159.6(SETD2):c.5632T>C (p.Phe1878Leu)
NM_014159.6(SETD2):c.5633T>C (p.Phe1878Ser) rs587778665
NM_014159.6(SETD2):c.5666T>C (p.Met1889Thr) rs148097513
NM_014159.6(SETD2):c.5682T>C (p.Ser1894=) rs1553690398
NM_014159.6(SETD2):c.578C>T (p.Pro193Leu) rs77310684
NM_014159.6(SETD2):c.5812G>A (p.Val1938Ile) rs116417406
NM_014159.6(SETD2):c.5870A>G (p.Asp1957Gly) rs1553690289
NM_014159.6(SETD2):c.5872G>C (p.Ala1958Pro)
NM_014159.6(SETD2):c.5900G>A (p.Gly1967Asp) rs143991928
NM_014159.6(SETD2):c.5900G>C (p.Gly1967Ala)
NM_014159.6(SETD2):c.590C>T (p.Ala197Val) rs374950143
NM_014159.6(SETD2):c.5942A>G (p.Gln1981Arg) rs189529024
NM_014159.6(SETD2):c.6009G>A (p.Val2003=) rs148671940
NM_014159.6(SETD2):c.6044G>A (p.Ser2015Asn) rs1366338930
NM_014159.6(SETD2):c.6109A>G (p.Thr2037Ala) rs113798770
NM_014159.6(SETD2):c.6119G>C (p.Arg2040Pro) rs1244929991
NM_014159.6(SETD2):c.6173A>G (p.Asn2058Ser) rs116277395
NM_014159.6(SETD2):c.6241C>T (p.Leu2081Phe) rs1553685117
NM_014159.6(SETD2):c.624A>G (p.Val208=) rs1174715079
NM_014159.6(SETD2):c.6341del (p.Asn2114fs) rs869025569
NM_014159.6(SETD2):c.6429C>A (p.Asn2143Lys)
NM_014159.6(SETD2):c.6455A>G (p.Tyr2152Cys) rs139628048
NM_014159.6(SETD2):c.6482A>C (p.His2161Pro)
NM_014159.6(SETD2):c.6604C>G (p.Pro2202Ala)
NM_014159.6(SETD2):c.6614A>G (p.His2205Arg) rs746404627
NM_014159.6(SETD2):c.664C>A (p.Leu222Ile) rs192262279
NM_014159.6(SETD2):c.6686T>G (p.Val2229Gly) rs377066147
NM_014159.6(SETD2):c.6737G>C (p.Gly2246Ala)
NM_014159.6(SETD2):c.676C>G (p.Pro226Ala) rs780963440
NM_014159.6(SETD2):c.6780G>A (p.Pro2260=) rs774896853
NM_014159.6(SETD2):c.6885A>G (p.Ile2295Met) rs150476239
NM_014159.6(SETD2):c.6953C>G (p.Pro2318Arg)
NM_014159.6(SETD2):c.6999_7007del (p.Gln2334_Ile2336del)
NM_014159.6(SETD2):c.7048G>A (p.Ala2350Thr)
NM_014159.6(SETD2):c.7060A>G (p.Thr2354Ala) rs145377213
NM_014159.6(SETD2):c.7068T>C (p.Val2356=) rs200525700
NM_014159.6(SETD2):c.7093C>G (p.Gln2365Glu)
NM_014159.6(SETD2):c.7164C>T (p.Thr2388=) rs144752494
NM_014159.6(SETD2):c.7284T>C (p.Asp2428=) rs201285612
NM_014159.6(SETD2):c.7350+6T>C
NM_014159.6(SETD2):c.7374A>G (p.Ala2458=) rs775487978
NM_014159.6(SETD2):c.799G>A (p.Val267Ile) rs186148199
NM_014159.6(SETD2):c.820C>T (p.Gln274Ter) rs869025571
NM_014159.6(SETD2):c.920C>A (p.Ser307Tyr) rs1303561180
NM_014159.6(SETD2):c.94A>G (p.Ile32Val) rs1170321784
NM_014159.6(SETD2):c.985C>A (p.Arg329=) rs372869995

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