ClinVar Miner

List of variants in gene CUL7 reported as uncertain significance for Three M syndrome

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Total variants: 58
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HGVS dbSNP
NM_014780.4(CUL7):c.*57A>G rs565386041
NM_014780.4(CUL7):c.*71A>G rs547477552
NM_014780.4(CUL7):c.-236G>A rs886061423
NM_014780.4(CUL7):c.-269A>G rs377101095
NM_014780.4(CUL7):c.-272C>T rs754072990
NM_014780.4(CUL7):c.-298C>G rs369727378
NM_014780.4(CUL7):c.-300G>C rs80311039
NM_014780.4(CUL7):c.1030G>A (p.Ala344Thr) rs183119565
NM_014780.4(CUL7):c.1215C>T (p.Asn405=) rs755095253
NM_014780.4(CUL7):c.1265G>T (p.Trp422Leu) rs886061420
NM_014780.4(CUL7):c.1513G>A (p.Asp505Asn) rs886061419
NM_014780.4(CUL7):c.1542G>T (p.Gln514His) rs146808129
NM_014780.4(CUL7):c.1590A>C (p.Leu530=) rs552325363
NM_014780.4(CUL7):c.161G>T (p.Gly54Val) rs886061422
NM_014780.4(CUL7):c.1664C>T (p.Ala555Val) rs747565596
NM_014780.4(CUL7):c.1716C>G (p.Ala572=) rs150213603
NM_014780.4(CUL7):c.1780G>A (p.Ala594Thr) rs141065679
NM_014780.4(CUL7):c.2115C>T (p.His705=) rs143128153
NM_014780.4(CUL7):c.2146C>T (p.Arg716Trp) rs753407734
NM_014780.4(CUL7):c.2169+5C>T rs886061418
NM_014780.4(CUL7):c.2287C>A (p.Leu763Met) rs776878896
NM_014780.4(CUL7):c.249C>T (p.Gly83=) rs764168236
NM_014780.4(CUL7):c.2563A>G (p.Lys855Glu) rs140218677
NM_014780.4(CUL7):c.2603A>G (p.Asn868Ser) rs149360738
NM_014780.4(CUL7):c.2693C>G (p.Ser898Trp) rs141829168
NM_014780.4(CUL7):c.2720T>C (p.Val907Ala) rs886061417
NM_014780.4(CUL7):c.2767-14C>T rs754969453
NM_014780.4(CUL7):c.2789G>A (p.Ser930Asn) rs61750321
NM_014780.4(CUL7):c.2803C>T (p.Leu935=) rs146309619
NM_014780.4(CUL7):c.3027C>T (p.His1009=) rs886061416
NM_014780.4(CUL7):c.3332C>T (p.Pro1111Leu) rs760768495
NM_014780.4(CUL7):c.3416T>C (p.Ile1139Thr) rs77965460
NM_014780.4(CUL7):c.3432G>A (p.Thr1144=) rs144556973
NM_014780.4(CUL7):c.3463-10T>C rs527664718
NM_014780.4(CUL7):c.3490C>T (p.Arg1164Trp) rs201135654
NM_014780.4(CUL7):c.384T>C (p.Cys128=) rs886061421
NM_014780.4(CUL7):c.3876C>T (p.Ile1292=) rs147056081
NM_014780.4(CUL7):c.4131T>C (p.Asn1377=) rs767470504
NM_014780.4(CUL7):c.4295-14C>A rs144154816
NM_014780.4(CUL7):c.4323C>T (p.Gly1441=) rs148472550
NM_014780.4(CUL7):c.4346C>T (p.Thr1449Met) rs144111004
NM_014780.4(CUL7):c.4443G>A (p.Ala1481=) rs572367422
NM_014780.4(CUL7):c.4463T>C (p.Leu1488Pro) rs41274912
NM_014780.4(CUL7):c.4625G>A (p.Arg1542Gln) rs189054608
NM_014780.4(CUL7):c.465A>T (p.Gly155=) rs150212051
NM_014780.4(CUL7):c.4683G>A (p.Glu1561=) rs886061415
NM_014780.4(CUL7):c.4690C>T (p.Arg1564Trp) rs761970375
NM_014780.4(CUL7):c.4762C>A (p.Leu1588Ile) rs147493246
NM_014780.4(CUL7):c.4876C>G (p.Leu1626Val) rs750060978
NM_014780.4(CUL7):c.4935C>T (p.Ser1645=) rs116910528
NM_014780.4(CUL7):c.5041C>T (p.Arg1681Trp) rs375165020
NM_014780.4(CUL7):c.5072C>T (p.Thr1691Ile) rs140092102
NM_014780.4(CUL7):c.533G>T (p.Arg178Leu) rs183865568
NM_014780.4(CUL7):c.587G>A (p.Arg196Gln) rs761377936
NM_014780.4(CUL7):c.733-12T>G rs755447863
NM_014780.4(CUL7):c.841G>A (p.Ala281Thr) rs374438135
NM_014780.4(CUL7):c.861G>A (p.Gly287=) rs61750322
NM_014780.4(CUL7):c.88G>A (p.Val30Met) rs752077507

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