ClinVar Miner

List of variants in gene CUL7 reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_014780.5(CUL7):c.4333C>T (p.Arg1445Ter) rs121918228 0.00002
NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter) rs1023630527 0.00001
NM_014780.5(CUL7):c.1648C>T (p.Arg550Ter) rs746333044 0.00001
NM_014780.5(CUL7):c.3129G>A (p.Trp1043Ter) rs374105452 0.00001
NM_014780.5(CUL7):c.3379_3380del (p.Trp1127fs) rs730880262 0.00001
NM_014780.5(CUL7):c.3380G>A (p.Trp1127Ter) rs184458742 0.00001
NM_014780.5(CUL7):c.3904C>T (p.Gln1302Ter) rs761238421 0.00001
NM_014780.5(CUL7):c.4582C>T (p.Arg1528Ter) rs762714074 0.00001
NM_014780.5(CUL7):c.4717C>T (p.Arg1573Ter) rs749509661 0.00001
NM_014780.5(CUL7):c.1274G>A (p.Trp425Ter)
NM_014780.5(CUL7):c.1484G>A (p.Trp495Ter) rs2150332568
NM_014780.5(CUL7):c.1528C>T (p.Gln510Ter) rs2150332479
NM_014780.5(CUL7):c.1876G>T (p.Glu626Ter)
NM_014780.5(CUL7):c.1882del (p.Tyr628fs)
NM_014780.5(CUL7):c.1913del (p.Leu638fs)
NM_014780.5(CUL7):c.2074C>T (p.Gln692Ter) rs2150328611
NM_014780.5(CUL7):c.2112G>A (p.Trp704Ter) rs1554138577
NM_014780.5(CUL7):c.2130_2131delinsTGCCTG (p.Cys711fs) rs1554138553
NM_014780.5(CUL7):c.2142_2161del (p.Cys714_Asp721delinsTer)
NM_014780.5(CUL7):c.2530del (p.Val844fs)
NM_014780.5(CUL7):c.2660+1G>C rs765870874
NM_014780.5(CUL7):c.2667del (p.Thr890fs) rs2150323046
NM_014780.5(CUL7):c.2729dup (p.Gly910_Asp911insTer)
NM_014780.5(CUL7):c.2771dup (p.Asn924fs)
NM_014780.5(CUL7):c.3064C>T (p.Gln1022Ter)
NM_014780.5(CUL7):c.3136del (p.Leu1046fs)
NM_014780.5(CUL7):c.3907C>T (p.Gln1303Ter) rs1321391137
NM_014780.5(CUL7):c.3937G>T (p.Glu1313Ter) rs761544849
NM_014780.5(CUL7):c.3991_3992del (p.Leu1331fs)
NM_014780.5(CUL7):c.4759C>T (p.Gln1587Ter) rs752203346
NM_014780.5(CUL7):c.4773+1G>A rs2150304155
NM_014780.5(CUL7):c.4780dup (p.Glu1594fs)
NM_014780.5(CUL7):c.650del (p.Ser217fs) rs1764426188
NM_014780.5(CUL7):c.655del (p.Cys219fs)
NM_014780.5(CUL7):c.679C>T (p.Gln227Ter) rs747103340
NM_014780.5(CUL7):c.785C>A (p.Ser262Ter) rs764858516

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