ClinVar Miner

List of variants reported as uncertain significance for 3M syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
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_014780.5(CUL7):c.136C>T (p.Arg46Trp) rs141692693 0.00108
NM_014780.5(CUL7):c.2115C>T (p.His705=) rs143128153 0.00098
NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu) rs140218677 0.00053
NM_014780.5(CUL7):c.2416G>A (p.Glu806Lys) rs200040003 0.00037
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.*71A>G rs547477552 0.00032
NM_014780.5(CUL7):c.-236G>A rs886061423 0.00029
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.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.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.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.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.866G>C (p.Arg289Thr) rs753386800 0.00002
NM_014780.5(CUL7):c.1005G>A (p.Leu335=) rs201310376 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.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.3184A>G (p.Ile1062Val) rs748818384 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.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.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.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.1513G>A (p.Asp505Asn) rs886061419
NM_014780.5(CUL7):c.213G>C (p.Lys71Asn) rs1764513779
NM_014780.5(CUL7):c.2169+5C>T rs886061418
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.2754G>T (p.Thr918=) rs138777262
NM_014780.5(CUL7):c.3027C>T (p.His1009=) rs886061416
NM_014780.5(CUL7):c.4683G>A (p.Glu1561=) rs886061415
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.733-12T>G rs755447863
NM_014780.5(CUL7):c.922G>T (p.Val308Leu) rs1064795325

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