ClinVar Miner

List of variants in gene CUL7 reported as likely pathogenic

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_014780.5(CUL7):c.2416G>A (p.Glu806Lys) rs200040003 0.00037
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_014780.5(CUL7):c.3356-2A>C rs201137899 0.00009
NM_014780.5(CUL7):c.2965T>G (p.Tyr989Asp) rs1295466248 0.00001
NM_014780.5(CUL7):c.4763T>C (p.Leu1588Pro) rs759300846 0.00001
NM_014780.5(CUL7):c.1392G>A (p.Trp464Ter) rs1764272092
NM_014780.5(CUL7):c.1482G>A (p.Trp494Ter) rs1561892336
NM_014780.5(CUL7):c.1563_1569+5del
NM_014780.5(CUL7):c.1569+1G>T rs2150332431
NM_014780.5(CUL7):c.1838del (p.Pro613fs)
NM_014780.5(CUL7):c.206dup (p.Met69fs) rs1561898352
NM_014780.5(CUL7):c.2397+1G>A
NM_014780.5(CUL7):c.2398-2A>G
NM_014780.5(CUL7):c.2592T>G (p.Tyr864Ter) rs201406974
NM_014780.5(CUL7):c.263del (p.Val88fs) rs786205651
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.3061G>A (p.Glu1021Lys) rs2150320060
NM_014780.5(CUL7):c.3089del (p.Pro1030fs) rs1561881909
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.3436T>C (p.Cys1146Arg) rs1064793092
NM_014780.5(CUL7):c.3463-1G>T
NM_014780.5(CUL7):c.3645+1G>A
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.4115del (p.Glu1372fs) rs1561873941
NM_014780.5(CUL7):c.4529G>T (p.Gly1510Val) rs786205581
NM_014780.5(CUL7):c.649_654del (p.Ser217_Arg218del) rs1340929933

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