ClinVar Miner

List of variants reported as likely benign for Sotos syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 254
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_022455.5(NSD1):c.1574G>A (p.Arg525Gln) rs138405802 0.00087
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly) rs113856002 0.00058
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180 0.00036
NM_022455.5(NSD1):c.3722G>C (p.Ser1241Thr) rs138641637 0.00035
NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr) rs142703625 0.00028
NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp) rs143571876 0.00024
NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys) rs138673583 0.00022
NM_022455.5(NSD1):c.6463+8C>A rs147592452 0.00021
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=) rs146601031 0.00019
NM_022455.5(NSD1):c.6464-5T>C rs545039997 0.00019
NM_022455.5(NSD1):c.6464-8G>T rs577262396 0.00019
NM_022455.5(NSD1):c.6991G>A (p.Asp2331Asn) rs772981865 0.00019
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys) rs200115665 0.00018
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr) rs559617787 0.00017
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=) rs61756006 0.00016
NM_022455.5(NSD1):c.816C>A (p.Asn272Lys) rs144524958 0.00014
NM_022455.5(NSD1):c.6276G>A (p.Thr2092=) rs138041618 0.00012
NM_022455.5(NSD1):c.786C>T (p.Asp262=) rs370328602 0.00012
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu) rs140583358 0.00011
NM_022455.5(NSD1):c.3500G>A (p.Arg1167His) rs763399938 0.00010
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=) rs140229717 0.00010
NM_022455.5(NSD1):c.3271C>A (p.Leu1091Ile) rs35597015 0.00009
NM_022455.5(NSD1):c.4665G>A (p.Leu1555=) rs779537845 0.00009
NM_022455.5(NSD1):c.6429C>T (p.His2143=) rs121908068 0.00009
NM_022455.5(NSD1):c.6795C>T (p.Ser2265=) rs148585227 0.00009
NM_022455.5(NSD1):c.72C>T (p.Ala24=) rs147146776 0.00009
NM_022455.5(NSD1):c.6259-8A>T rs370529039 0.00008
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val) rs398124386 0.00008
NM_022455.5(NSD1):c.142A>G (p.Met48Val) rs200735877 0.00007
NM_022455.5(NSD1):c.4765+15G>A rs766201833 0.00007
NM_022455.5(NSD1):c.2031T>G (p.Ser677=) rs143705256 0.00006
NM_022455.5(NSD1):c.395G>C (p.Cys132Ser) rs28932174 0.00006
NM_022455.5(NSD1):c.4379-5C>T rs763154004 0.00006
NM_022455.5(NSD1):c.5010C>T (p.Ala1670=) rs1351246894 0.00006
NM_022455.5(NSD1):c.7160C>T (p.Pro2387Leu) rs766700264 0.00006
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp) rs142657029 0.00005
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln) rs756022347 0.00005
NM_022455.5(NSD1):c.4303-4A>G rs775759198 0.00005
NM_022455.5(NSD1):c.1605A>G (p.Leu535=) rs746977419 0.00004
NM_022455.5(NSD1):c.2425G>A (p.Glu809Lys) rs371421105 0.00004
NM_022455.5(NSD1):c.2586C>T (p.Ser862=) rs752997132 0.00004
NM_022455.5(NSD1):c.2766G>A (p.Thr922=) rs369705297 0.00004
NM_022455.5(NSD1):c.3092G>A (p.Arg1031Gln) rs780306768 0.00004
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser) rs188847458 0.00004
NM_022455.5(NSD1):c.5007C>T (p.His1669=) rs146414176 0.00004
NM_022455.5(NSD1):c.6259-20G>A rs369478260 0.00004
NM_022455.5(NSD1):c.7145C>T (p.Thr2382Ile) rs148027433 0.00004
NM_022455.5(NSD1):c.1830A>G (p.Gln610=) rs759706066 0.00003
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983 0.00003
NM_022455.5(NSD1):c.3588G>T (p.Val1196=) rs549662786 0.00003
NM_022455.5(NSD1):c.3698G>A (p.Arg1233Gln) rs774868314 0.00003
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser) rs141911573 0.00003
NM_022455.5(NSD1):c.4332C>T (p.Gly1444=) rs147235302 0.00003
NM_022455.5(NSD1):c.454C>T (p.His152Tyr) rs765845162 0.00003
NM_022455.5(NSD1):c.5532G>A (p.Arg1844=) rs201357386 0.00003
NM_022455.5(NSD1):c.5934A>G (p.Glu1978=) rs747791387 0.00003
NM_022455.5(NSD1):c.6001C>T (p.Leu2001=) rs587784172 0.00003
NM_022455.5(NSD1):c.6468A>G (p.Lys2156=) rs752628095 0.00003
NM_022455.5(NSD1):c.682C>G (p.Pro228Ala) rs770522999 0.00003
NM_022455.5(NSD1):c.7025C>T (p.Ser2342Leu) rs201609442 0.00003
NM_022455.5(NSD1):c.7452A>G (p.Pro2484=) rs146676933 0.00003
NM_022455.5(NSD1):c.7500G>C (p.Met2500Ile) rs770120153 0.00003
NM_022455.5(NSD1):c.7531G>C (p.Asp2511His) rs575229932 0.00003
NM_022455.5(NSD1):c.1176C>T (p.Phe392=) rs763543904 0.00002
NM_022455.5(NSD1):c.1500A>G (p.Arg500=) rs1469000222 0.00002
NM_022455.5(NSD1):c.1763A>G (p.Asp588Gly) rs1046371505 0.00002
NM_022455.5(NSD1):c.1992A>G (p.Glu664=) rs770274186 0.00002
NM_022455.5(NSD1):c.2170G>A (p.Glu724Lys) rs771456995 0.00002
NM_022455.5(NSD1):c.222A>G (p.Arg74=) rs201780407 0.00002
NM_022455.5(NSD1):c.241A>G (p.Met81Val) rs763781326 0.00002
NM_022455.5(NSD1):c.2991C>T (p.Gly997=) rs751017119 0.00002
NM_022455.5(NSD1):c.3267T>A (p.Asp1089Glu) rs1406037834 0.00002
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr) rs202208033 0.00002
NM_022455.5(NSD1):c.5082C>T (p.Thr1694=) rs587784136 0.00002
NM_022455.5(NSD1):c.5147-20A>C rs1239151310 0.00002
NM_022455.5(NSD1):c.5510-10G>A rs767198805 0.00002
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro) rs776592297 0.00002
NM_022455.5(NSD1):c.7164G>A (p.Pro2388=) rs780619128 0.00002
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=) rs147033795 0.00002
NM_022455.5(NSD1):c.8025A>G (p.Gln2675=) rs199895437 0.00002
NM_022455.5(NSD1):c.1035G>A (p.Pro345=) rs776701573 0.00001
NM_022455.5(NSD1):c.1173A>G (p.Gln391=) rs146581653 0.00001
NM_022455.5(NSD1):c.1230G>A (p.Arg410=) rs1312457601 0.00001
NM_022455.5(NSD1):c.1252T>C (p.Leu418=) rs201329783 0.00001
NM_022455.5(NSD1):c.1290G>A (p.Gln430=) rs535674820 0.00001
NM_022455.5(NSD1):c.1716C>T (p.Ser572=) rs375093905 0.00001
NM_022455.5(NSD1):c.1842G>A (p.Val614=) rs761181063 0.00001
NM_022455.5(NSD1):c.2007C>T (p.Phe669=) rs530934556 0.00001
NM_022455.5(NSD1):c.2103G>A (p.Lys701=) rs727504053 0.00001
NM_022455.5(NSD1):c.2331A>C (p.Leu777=) rs772447375 0.00001
NM_022455.5(NSD1):c.2340G>A (p.Ser780=) rs766703389 0.00001
NM_022455.5(NSD1):c.2475C>T (p.Ala825=) rs781498491 0.00001
NM_022455.5(NSD1):c.3201A>G (p.Val1067=) rs771361976 0.00001
NM_022455.5(NSD1):c.331A>G (p.Ile111Val) rs1201715787 0.00001
NM_022455.5(NSD1):c.3426C>T (p.Asn1142=) rs1182714953 0.00001
NM_022455.5(NSD1):c.352C>G (p.Pro118Ala) rs587784102 0.00001
NM_022455.5(NSD1):c.3921+9C>T rs192246663 0.00001
NM_022455.5(NSD1):c.4074G>A (p.Gln1358=) rs777941389 0.00001
NM_022455.5(NSD1):c.4081C>G (p.Leu1361Val) rs748973344 0.00001
NM_022455.5(NSD1):c.4551A>G (p.Glu1517=) rs377275787 0.00001
NM_022455.5(NSD1):c.4966+15T>C rs587784130 0.00001
NM_022455.5(NSD1):c.5067C>T (p.Cys1689=) rs1313604020 0.00001
NM_022455.5(NSD1):c.5610T>C (p.Tyr1870=) rs1581507735 0.00001
NM_022455.5(NSD1):c.6043T>C (p.Tyr2015His) rs587784175 0.00001
NM_022455.5(NSD1):c.6387G>A (p.Gln2129=) rs998492947 0.00001
NM_022455.5(NSD1):c.6408A>G (p.Pro2136=) rs771993179 0.00001
NM_022455.5(NSD1):c.6480G>A (p.Pro2160=) rs587784203 0.00001
NM_022455.5(NSD1):c.7152G>C (p.Leu2384=) rs758847471 0.00001
NM_022455.5(NSD1):c.7753G>A (p.Gly2585Arg) rs140839289 0.00001
NM_022455.5(NSD1):c.7779C>T (p.Ala2593=) rs398124388 0.00001
NM_022455.5(NSD1):c.7780G>A (p.Ala2594Thr) rs146010779 0.00001
NM_022455.5(NSD1):c.7809C>G (p.Leu2603=) rs769301382 0.00001
NM_022455.5(NSD1):c.1064-10C>T rs1057523596
NM_022455.5(NSD1):c.1064-6A>T
NM_022455.5(NSD1):c.1064-9C>T
NM_022455.5(NSD1):c.1236+17G>A rs886038671
NM_022455.5(NSD1):c.1236+9C>T
NM_022455.5(NSD1):c.1338A>T (p.Ser446=) rs2149842674
NM_022455.5(NSD1):c.1395G>A (p.Glu465=)
NM_022455.5(NSD1):c.1407C>A (p.Asp469Glu)
NM_022455.5(NSD1):c.1410G>A (p.Leu470=)
NM_022455.5(NSD1):c.141T>C (p.Thr47=)
NM_022455.5(NSD1):c.1483G>A (p.Ala495Thr) rs752490855
NM_022455.5(NSD1):c.151T>C (p.Ser51Pro)
NM_022455.5(NSD1):c.1634C>T (p.Thr545Met)
NM_022455.5(NSD1):c.1783G>A (p.Glu595Lys)
NM_022455.5(NSD1):c.1800A>C (p.Ser600=) rs2149843727
NM_022455.5(NSD1):c.1811G>A (p.Arg604Gln) rs61744451
NM_022455.5(NSD1):c.1813G>C (p.Glu605Gln) rs971996804
NM_022455.5(NSD1):c.1874G>A (p.Gly625Glu)
NM_022455.5(NSD1):c.1925C>T (p.Ser642Phe)
NM_022455.5(NSD1):c.2026T>C (p.Leu676=)
NM_022455.5(NSD1):c.2073C>T (p.Ala691=) rs1054023528
NM_022455.5(NSD1):c.2091A>G (p.Lys697=)
NM_022455.5(NSD1):c.2155G>A (p.Ala719Thr)
NM_022455.5(NSD1):c.2175G>A (p.Thr725=)
NM_022455.5(NSD1):c.2175_2176inv (p.Ser726Pro)
NM_022455.5(NSD1):c.2241A>G (p.Thr747=)
NM_022455.5(NSD1):c.2249C>T (p.Ala750Val)
NM_022455.5(NSD1):c.2250T>A (p.Ala750=)
NM_022455.5(NSD1):c.2376C>T (p.Cys792=) rs368839996
NM_022455.5(NSD1):c.2401G>A (p.Ala801Thr)
NM_022455.5(NSD1):c.2417T>C (p.Ile806Thr)
NM_022455.5(NSD1):c.252A>G (p.Val84=)
NM_022455.5(NSD1):c.2565A>G (p.Ala855=)
NM_022455.5(NSD1):c.2652A>G (p.Pro884=) rs1060504243
NM_022455.5(NSD1):c.2669T>A (p.Phe890Tyr)
NM_022455.5(NSD1):c.2776C>T (p.Arg926Trp) rs886038674
NM_022455.5(NSD1):c.2805T>C (p.Ser935=)
NM_022455.5(NSD1):c.2853A>C (p.Gly951=)
NM_022455.5(NSD1):c.290T>A (p.Phe97Tyr)
NM_022455.5(NSD1):c.2930A>G (p.Asn977Ser)
NM_022455.5(NSD1):c.2970G>T (p.Glu990Asp)
NM_022455.5(NSD1):c.2976T>A (p.Ser992=)
NM_022455.5(NSD1):c.3034C>T (p.Arg1012Cys)
NM_022455.5(NSD1):c.3151G>A (p.Glu1051Lys)
NM_022455.5(NSD1):c.3155G>A (p.Arg1052His)
NM_022455.5(NSD1):c.3226G>A (p.Gly1076Ser)
NM_022455.5(NSD1):c.3321T>C (p.Asp1107=)
NM_022455.5(NSD1):c.3348A>G (p.Gln1116=)
NM_022455.5(NSD1):c.3383C>T (p.Ser1128Phe) rs559441081
NM_022455.5(NSD1):c.3409C>T (p.Leu1137=)
NM_022455.5(NSD1):c.3446A>C (p.Asn1149Thr)
NM_022455.5(NSD1):c.3511C>T (p.Arg1171Cys)
NM_022455.5(NSD1):c.3639A>G (p.Ile1213Met) rs1425698482
NM_022455.5(NSD1):c.3664A>G (p.Asn1222Asp)
NM_022455.5(NSD1):c.3762C>T (p.Pro1254=) rs794727734
NM_022455.5(NSD1):c.3771A>G (p.Thr1257=)
NM_022455.5(NSD1):c.3819C>T (p.Arg1273=)
NM_022455.5(NSD1):c.3921+18A>G
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro) rs750684515
NM_022455.5(NSD1):c.3966A>C (p.Arg1322=)
NM_022455.5(NSD1):c.405C>T (p.Ser135=)
NM_022455.5(NSD1):c.4107G>A (p.Pro1369=)
NM_022455.5(NSD1):c.4193-17A>G
NM_022455.5(NSD1):c.4193-8C>T
NM_022455.5(NSD1):c.4257C>A (p.Asp1419Glu)
NM_022455.5(NSD1):c.4303-8A>G
NM_022455.5(NSD1):c.4308T>C (p.Tyr1436=)
NM_022455.5(NSD1):c.4378+15_4378+16del rs2149894868
NM_022455.5(NSD1):c.4458G>A (p.Val1486=)
NM_022455.5(NSD1):c.4473G>A (p.Ser1491=) rs150920473
NM_022455.5(NSD1):c.451C>T (p.Leu151=)
NM_022455.5(NSD1):c.4563C>T (p.His1521=)
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr) rs201483724
NM_022455.5(NSD1):c.4722T>G (p.Thr1574=) rs1279409189
NM_022455.5(NSD1):c.4765+18C>T rs751340849
NM_022455.5(NSD1):c.4765+19G>A
NM_022455.5(NSD1):c.4766-7T>C rs2149912243
NM_022455.5(NSD1):c.4766-9G>T rs747358179
NM_022455.5(NSD1):c.4818C>T (p.Cys1606=)
NM_022455.5(NSD1):c.4860C>T (p.Val1620=) rs1756523594
NM_022455.5(NSD1):c.487G>A (p.Asp163Asn)
NM_022455.5(NSD1):c.4959A>G (p.Ala1653=)
NM_022455.5(NSD1):c.4966+7A>G rs2149912804
NM_022455.5(NSD1):c.4967-12T>A
NM_022455.5(NSD1):c.4995T>C (p.Pro1665=)
NM_022455.5(NSD1):c.5147-12T>G
NM_022455.5(NSD1):c.5218G>A (p.Glu1740Lys)
NM_022455.5(NSD1):c.5235C>T (p.Cys1745=)
NM_022455.5(NSD1):c.5269A>C (p.Arg1757=) rs1280607631
NM_022455.5(NSD1):c.530A>G (p.Asp177Gly) rs538618950
NM_022455.5(NSD1):c.5382C>T (p.Phe1794=) rs878855076
NM_022455.5(NSD1):c.549C>T (p.Ile183=) rs758535770
NM_022455.5(NSD1):c.5502T>C (p.Tyr1834=)
NM_022455.5(NSD1):c.560C>G (p.Thr187Ser)
NM_022455.5(NSD1):c.567C>T (p.Thr189=) rs769162062
NM_022455.5(NSD1):c.5682T>C (p.Arg1894=)
NM_022455.5(NSD1):c.5769A>C (p.Thr1923=) rs1448380303
NM_022455.5(NSD1):c.5979C>A (p.Ile1993=)
NM_022455.5(NSD1):c.6075C>T (p.Pro2025=)
NM_022455.5(NSD1):c.6087A>T (p.Thr2029=)
NM_022455.5(NSD1):c.6151+10A>T
NM_022455.5(NSD1):c.6151+18A>T
NM_022455.5(NSD1):c.6259-4G>T rs764710462
NM_022455.5(NSD1):c.6432A>G (p.Ala2144=) rs757619678
NM_022455.5(NSD1):c.6464-13T>C
NM_022455.5(NSD1):c.6606T>C (p.Cys2202=)
NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln) rs755013078
NM_022455.5(NSD1):c.6681G>A (p.Pro2227=)
NM_022455.5(NSD1):c.672G>A (p.Ser224=) rs1320622588
NM_022455.5(NSD1):c.6804T>G (p.Ala2268=)
NM_022455.5(NSD1):c.6829T>A (p.Leu2277Met) rs28580074
NM_022455.5(NSD1):c.6898G>A (p.Ala2300Thr)
NM_022455.5(NSD1):c.7041C>G (p.Ser2347=)
NM_022455.5(NSD1):c.7045C>T (p.Pro2349Ser)
NM_022455.5(NSD1):c.7122A>T (p.Ser2374=)
NM_022455.5(NSD1):c.717G>A (p.Lys239=)
NM_022455.5(NSD1):c.7182T>C (p.Ile2394=) rs1760115755
NM_022455.5(NSD1):c.7218T>C (p.Pro2406=)
NM_022455.5(NSD1):c.7329C>T (p.Asp2443=)
NM_022455.5(NSD1):c.7356T>C (p.Ala2452=)
NM_022455.5(NSD1):c.7398G>A (p.Lys2466=) rs2127282700
NM_022455.5(NSD1):c.7401G>A (p.Glu2467=)
NM_022455.5(NSD1):c.7410T>C (p.Ala2470=)
NM_022455.5(NSD1):c.757C>G (p.Leu253Val)
NM_022455.5(NSD1):c.7596A>G (p.Ser2532=) rs2127283671
NM_022455.5(NSD1):c.7721C>T (p.Pro2574Leu)
NM_022455.5(NSD1):c.7752C>T (p.Val2584=) rs1175003950
NM_022455.5(NSD1):c.7799T>C (p.Phe2600Ser)
NM_022455.5(NSD1):c.7809C>T (p.Leu2603=) rs769301382
NM_022455.5(NSD1):c.7810G>A (p.Gly2604Arg)
NM_022455.5(NSD1):c.793A>G (p.Ile265Val) rs771587260
NM_022455.5(NSD1):c.7942_7980del (p.Ser2648_Gln2660del) rs762472610
NM_022455.5(NSD1):c.7995T>C (p.Leu2665=)
NM_022455.5(NSD1):c.887C>G (p.Pro296Arg) rs1189702665
NM_022455.5(NSD1):c.897A>T (p.Ser299=)
NM_022455.5(NSD1):c.91C>G (p.Pro31Ala) rs905320202
NM_022455.5(NSD1):c.928-8G>C rs1761722744
NM_022455.5(NSD1):c.951G>A (p.Thr317=)
NM_022455.5(NSD1):c.952C>T (p.Pro318Ser)

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