ClinVar Miner

List of variants studied for 3M syndrome 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 189
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014780.5(CUL7):c.2439A>G (p.Gln813=) rs9394939 0.97892
NM_014780.5(CUL7):c.2438A>G (p.Gln813Arg) rs9381231 0.97891
NM_014780.5(CUL7):c.3993G>A (p.Leu1331=) rs2273917 0.27596
NM_014780.5(CUL7):c.339C>T (p.Asp113=) rs4711738 0.22523
NM_014780.5(CUL7):c.-168C>T rs3737186 0.09184
NM_014780.5(CUL7):c.4794G>A (p.Lys1598=) rs61437700 0.02584
NM_014780.5(CUL7):c.2555G>A (p.Arg852Gln) rs34574340 0.02119
NM_014780.5(CUL7):c.2612C>T (p.Ala871Val) rs61732148 0.01767
NM_014780.5(CUL7):c.1202G>A (p.Arg401Gln) rs73733791 0.01429
NM_014780.5(CUL7):c.1027C>T (p.Pro343Ser) rs113845886 0.01387
NM_014780.5(CUL7):c.3096C>T (p.Asp1032=) rs138276478 0.01292
NM_014780.5(CUL7):c.1846A>G (p.Ser616Gly) rs7774330 0.01270
NM_014780.5(CUL7):c.4762C>A (p.Leu1588Ile) rs147493246 0.00727
NM_014780.5(CUL7):c.1780G>A (p.Ala594Thr) rs141065679 0.00707
NM_014780.5(CUL7):c.4463T>C (p.Leu1488Pro) rs41274912 0.00688
NM_014780.5(CUL7):c.5088C>T (p.Thr1696=) rs73733789 0.00426
NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser) rs61750320 0.00170
NM_014780.5(CUL7):c.861G>A (p.Gly287=) rs61750322 0.00140
NM_014780.5(CUL7):c.1457G>A (p.Cys486Tyr) rs151021564 0.00128
NM_014780.4(CUL7):c.-300G>C rs80311039 0.00120
NM_014780.5(CUL7):c.136C>T (p.Arg46Trp) rs141692693 0.00108
NM_014780.5(CUL7):c.4659G>A (p.Glu1553=) rs139243761 0.00107
NM_014780.5(CUL7):c.3490C>T (p.Arg1164Trp) rs201135654 0.00102
NM_014780.5(CUL7):c.2115C>T (p.His705=) rs143128153 0.00098
NM_014780.5(CUL7):c.465A>T (p.Gly155=) rs150212051 0.00094
NM_014780.5(CUL7):c.2803C>T (p.Leu935=) rs146309619 0.00091
NM_014780.5(CUL7):c.3695G>A (p.Arg1232Gln) rs36004037 0.00089
NM_014780.5(CUL7):c.1982G>A (p.Arg661Gln) rs139887350 0.00068
NM_014780.5(CUL7):c.4323C>T (p.Gly1441=) rs148472550 0.00066
NM_014780.5(CUL7):c.4898C>T (p.Thr1633Met) rs139249497 0.00063
NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu) rs140218677 0.00053
NM_014780.5(CUL7):c.4935C>T (p.Ser1645=) rs116910528 0.00049
NM_014780.5(CUL7):c.3876C>T (p.Ile1292=) rs147056081 0.00046
NM_014780.5(CUL7):c.4074A>T (p.Glu1358Asp) rs146346558 0.00044
NM_014780.5(CUL7):c.1030G>A (p.Ala344Thr) rs183119565 0.00042
NM_014780.4(CUL7):c.-269A>G rs377101095 0.00037
NM_014780.5(CUL7):c.2416G>A (p.Glu806Lys) rs200040003 0.00037
NM_014780.5(CUL7):c.1542G>T (p.Gln514His) rs146808129 0.00036
NM_014780.5(CUL7):c.3432G>A (p.Thr1144=) rs144556973 0.00036
NM_014780.5(CUL7):c.*57A>G rs565386041 0.00034
NM_014780.5(CUL7):c.3416T>C (p.Ile1139Thr) rs77965460 0.00034
NM_014780.4(CUL7):c.-272C>T rs754072990 0.00033
NM_014780.5(CUL7):c.*71A>G rs547477552 0.00032
NM_014780.5(CUL7):c.-236G>A rs886061423 0.00029
NM_014780.4(CUL7):c.-298C>G rs369727378 0.00026
NM_014780.5(CUL7):c.4261A>G (p.Thr1421Ala) rs191578513 0.00024
NM_014780.5(CUL7):c.1716C>G (p.Ala572=) rs150213603 0.00023
NM_014780.5(CUL7):c.3283C>T (p.Arg1095Cys) rs150015706 0.00023
NM_014780.5(CUL7):c.2789G>A (p.Ser930Asn) rs61750321 0.00022
NM_014780.5(CUL7):c.2819G>A (p.Arg940His) rs201130952 0.00017
NM_014780.5(CUL7):c.5093G>A (p.Arg1698Gln) rs541161018 0.00017
NM_014780.5(CUL7):c.2693C>G (p.Ser898Trp) rs141829168 0.00016
NM_014780.5(CUL7):c.4346C>T (p.Thr1449Met) rs144111004 0.00014
NM_014780.5(CUL7):c.767G>A (p.Arg256Gln) rs151210822 0.00013
NM_014780.5(CUL7):c.2230G>A (p.Val744Met) rs547138217 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_014780.5(CUL7):c.4443G>A (p.Ala1481=) rs572367422 0.00010
NM_014780.5(CUL7):c.5072C>T (p.Thr1691Ile) rs140092102 0.00010
NM_014780.5(CUL7):c.3284G>A (p.Arg1095His) rs188419107 0.00009
NM_014780.5(CUL7):c.3915G>A (p.Leu1305=) rs376630030 0.00009
NM_014780.5(CUL7):c.-206A>G rs1281399761 0.00008
NM_014780.5(CUL7):c.426C>T (p.His142=) rs138730481 0.00008
NM_014780.5(CUL7):c.2603A>G (p.Asn868Ser) rs149360738 0.00007
NM_014780.5(CUL7):c.3747G>A (p.Leu1249=) rs141211365 0.00006
NM_014780.5(CUL7):c.5041C>T (p.Arg1681Trp) rs375165020 0.00006
NM_014780.5(CUL7):c.509T>G (p.Leu170Trp) rs138430226 0.00006
NM_014780.5(CUL7):c.1867C>T (p.Arg623Cys) rs147775109 0.00005
NM_014780.5(CUL7):c.4823G>A (p.Ser1608Asn) rs181823275 0.00005
NM_014780.5(CUL7):c.587G>A (p.Arg196Gln) rs761377936 0.00005
NM_014780.5(CUL7):c.1749A>G (p.Leu583=) rs775748613 0.00004
NM_014780.5(CUL7):c.2146C>T (p.Arg716Trp) rs753407734 0.00004
NM_014780.5(CUL7):c.2164C>T (p.Arg722Ter) rs886042376 0.00004
NM_014780.5(CUL7):c.2200C>T (p.Arg734Cys) rs537793662 0.00004
NM_014780.5(CUL7):c.2767-14C>T rs754969453 0.00004
NM_014780.5(CUL7):c.2885G>A (p.Arg962Gln) rs761386869 0.00004
NM_014780.5(CUL7):c.3463-10T>C rs527664718 0.00004
NM_014780.5(CUL7):c.3463-15G>T rs757487546 0.00004
NM_014780.5(CUL7):c.3491G>A (p.Arg1164Gln) rs764000209 0.00004
NM_014780.5(CUL7):c.3605C>T (p.Ala1202Val) rs762601845 0.00004
NM_014780.5(CUL7):c.4417C>T (p.Leu1473=) rs201386557 0.00004
NM_014780.5(CUL7):c.4607C>T (p.Ser1536Leu) rs765173994 0.00004
NM_014780.5(CUL7):c.4876C>G (p.Leu1626Val) rs750060978 0.00004
NM_014780.5(CUL7):c.4972G>A (p.Glu1658Lys) rs143717016 0.00004
NM_014780.5(CUL7):c.1590A>C (p.Leu530=) rs552325363 0.00003
NM_014780.5(CUL7):c.1664C>T (p.Ala555Val) rs747565596 0.00003
NM_014780.5(CUL7):c.2360G>A (p.Arg787His) rs200899810 0.00003
NM_014780.5(CUL7):c.2586G>T (p.Lys862Asn) rs749595977 0.00003
NM_014780.5(CUL7):c.268G>A (p.Gly90Arg) rs370127154 0.00003
NM_014780.5(CUL7):c.3895C>T (p.Arg1299Cys) rs759612933 0.00003
NM_014780.5(CUL7):c.88G>A (p.Val30Met) rs752077507 0.00003
NM_014780.5(CUL7):c.1689T>C (p.His563=) rs753550369 0.00002
NM_014780.5(CUL7):c.1823A>G (p.Glu608Gly) rs199819170 0.00002
NM_014780.5(CUL7):c.2818C>T (p.Arg940Cys) rs150327473 0.00002
NM_014780.5(CUL7):c.3080G>A (p.Arg1027His) rs142250046 0.00002
NM_014780.5(CUL7):c.3332C>T (p.Pro1111Leu) rs760768495 0.00002
NM_014780.5(CUL7):c.4059C>T (p.Ser1353=) rs748157885 0.00002
NM_014780.5(CUL7):c.4333C>T (p.Arg1445Ter) rs121918228 0.00002
NM_014780.5(CUL7):c.866G>C (p.Arg289Thr) rs753386800 0.00002
NM_014780.5(CUL7):c.1005G>A (p.Leu335=) rs201310376 0.00001
NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter) rs1023630527 0.00001
NM_014780.5(CUL7):c.1165T>C (p.Tyr389His) rs201953649 0.00001
NM_014780.5(CUL7):c.1215C>T (p.Asn405=) rs755095253 0.00001
NM_014780.5(CUL7):c.161G>T (p.Gly54Val) rs886061422 0.00001
NM_014780.5(CUL7):c.1648C>T (p.Arg550Ter) rs746333044 0.00001
NM_014780.5(CUL7):c.1753G>A (p.Ala585Thr) rs770077329 0.00001
NM_014780.5(CUL7):c.2287C>A (p.Leu763Met) rs776878896 0.00001
NM_014780.5(CUL7):c.249C>T (p.Gly83=) rs764168236 0.00001
NM_014780.5(CUL7):c.2965T>G (p.Tyr989Asp) rs1295466248 0.00001
NM_014780.5(CUL7):c.3184A>G (p.Ile1062Val) rs748818384 0.00001
NM_014780.5(CUL7):c.3379_3380del (p.Trp1127fs) rs730880262 0.00001
NM_014780.5(CUL7):c.384T>C (p.Cys128=) rs886061421 0.00001
NM_014780.5(CUL7):c.4035G>A (p.Gly1345=) rs758986941 0.00001
NM_014780.5(CUL7):c.4069G>A (p.Glu1357Lys) rs78682787 0.00001
NM_014780.5(CUL7):c.4131T>C (p.Asn1377=) rs767470504 0.00001
NM_014780.5(CUL7):c.4318C>T (p.Arg1440Ter) rs748555538 0.00001
NM_014780.5(CUL7):c.4391A>C (p.His1464Pro) rs121918229 0.00001
NM_014780.5(CUL7):c.4440+13C>T rs144245050 0.00001
NM_014780.5(CUL7):c.4570G>A (p.Val1524Ile) rs369045809 0.00001
NM_014780.5(CUL7):c.4605G>A (p.Arg1535=) rs1363062305 0.00001
NM_014780.5(CUL7):c.4690C>T (p.Arg1564Trp) rs761970375 0.00001
NM_014780.5(CUL7):c.4763T>C (p.Leu1588Pro) rs759300846 0.00001
NM_014780.5(CUL7):c.580+48C>T rs377606153 0.00001
NM_014780.5(CUL7):c.841G>A (p.Ala281Thr) rs374438135 0.00001
NM_014780.4(CUL7):c.2767_2789delGTGAATGTGATGCCCTCTGCCAG
NM_014780.5(CUL7):c.-186A>C rs1159816166
NM_014780.5(CUL7):c.1000C>A (p.Gln334Lys) rs1561894798
NM_014780.5(CUL7):c.1101T>C (p.Asn367=) rs1764361426
NM_014780.5(CUL7):c.140G>T (p.Arg47Leu) rs535734678
NM_014780.5(CUL7):c.1417G>A (p.Val473Met) rs1764269879
NM_014780.5(CUL7):c.1482G>A (p.Trp494Ter) rs1561892336
NM_014780.5(CUL7):c.1513G>A (p.Asp505Asn) rs886061419
NM_014780.5(CUL7):c.1563_1569+5del
NM_014780.5(CUL7):c.1569+76G>C
NM_014780.5(CUL7):c.1570-3C>A rs730880263
NM_014780.5(CUL7):c.1651C>T (p.Leu551Phe) rs905431266
NM_014780.5(CUL7):c.167G>T (p.Gly56Val)
NM_014780.5(CUL7):c.1838del (p.Pro613fs)
NM_014780.5(CUL7):c.2064-1G>A rs2150328634
NM_014780.5(CUL7):c.206dup (p.Met69fs) rs1561898352
NM_014780.5(CUL7):c.213G>C (p.Lys71Asn) rs1764513779
NM_014780.5(CUL7):c.2150_2151insA (p.Asn719fs)
NM_014780.5(CUL7):c.2169+5C>T rs886061418
NM_014780.5(CUL7):c.2381T>G (p.Leu794Arg) rs1763962099
NM_014780.5(CUL7):c.2434C>T (p.His812Tyr) rs1561885852
NM_014780.5(CUL7):c.2438_2439delinsGG (p.Gln813Arg) rs61748654
NM_014780.5(CUL7):c.2581C>T (p.Pro861Ser) rs147452416
NM_014780.5(CUL7):c.2583C>G (p.Pro861=) rs1763899878
NM_014780.5(CUL7):c.2592T>G (p.Tyr864Ter) rs201406974
NM_014780.5(CUL7):c.2754G>T (p.Thr918=) rs138777262
NM_014780.5(CUL7):c.2761_2765del (p.Asn921fs)
NM_014780.5(CUL7):c.2862+1G>A
NM_014780.5(CUL7):c.2862+2T>G rs2150321832
NM_014780.5(CUL7):c.2863-1G>C
NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter) rs1581930130
NM_014780.5(CUL7):c.3027C>T (p.His1009=) rs886061416
NM_014780.5(CUL7):c.3061G>A (p.Glu1021Lys) rs2150320060
NM_014780.5(CUL7):c.3089del (p.Pro1030fs) rs1561881909
NM_014780.5(CUL7):c.3173-1G>C rs864309521
NM_014780.5(CUL7):c.3247del (p.Gln1083fs) rs1763636120
NM_014780.5(CUL7):c.3295del (p.Leu1099fs) rs2150317151
NM_014780.5(CUL7):c.3368_3369del (p.Arg1123fs)
NM_014780.5(CUL7):c.3685C>T (p.Gln1229Ter) rs1561875767
NM_014780.5(CUL7):c.3722_3749dup (p.Val1252fs) rs766471384
NM_014780.5(CUL7):c.3847T>C (p.Trp1283Arg)
NM_014780.5(CUL7):c.3902C>G (p.Pro1301Arg) rs766640818
NM_014780.5(CUL7):c.4115del (p.Glu1372fs) rs1561873941
NM_014780.5(CUL7):c.4120GAG[2] (p.Glu1376del) rs774299493
NM_014780.5(CUL7):c.418_419del (p.Thr140fs) rs1764489246
NM_014780.5(CUL7):c.4295-14C>A rs144154816
NM_014780.5(CUL7):c.4297C>T (p.Gln1433Ter) rs377169342
NM_014780.5(CUL7):c.4406A>G (p.Gln1469Arg) rs1561871681
NM_014780.5(CUL7):c.4451_4452del (p.Val1484fs) rs730880261
NM_014780.5(CUL7):c.4504A>T (p.Ile1502Phe) rs1188969387
NM_014780.5(CUL7):c.4651C>T (p.Gln1551Ter)
NM_014780.5(CUL7):c.4683G>A (p.Glu1561=) rs886061415
NM_014780.5(CUL7):c.4770_4773del (p.Cys1590fs) rs2150304168
NM_014780.5(CUL7):c.4848C>A (p.Cys1616Ter) rs149214556
NM_014780.5(CUL7):c.5029_5030del (p.Gln1677fs)
NM_014780.5(CUL7):c.5041C>G (p.Arg1681Gly) rs375165020
NM_014780.5(CUL7):c.533G>T (p.Arg178Leu) rs183865568
NM_014780.5(CUL7):c.60C>T (p.Ala20=) rs1764530830
NM_014780.5(CUL7):c.652del (p.Arg218fs) rs1581962986
NM_014780.5(CUL7):c.733-12T>G rs755447863
NM_014780.5(CUL7):c.922G>T (p.Val308Leu) rs1064795325
NM_014780.5(CUL7):c.[2164C>T;4911dup]
NM_014780.5(CUL7):c.[3129G>A;4763T>C]
NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter) rs1559155954
NM_015311.3(OBSL1):c.1187G>A (p.Arg396His) rs1559155800
NM_015311.3(OBSL1):c.1277_1282+5del rs760929207

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.