ClinVar Miner

List of variants in gene CUL7 reported as pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_014780.5(CUL7):c.2164C>T (p.Arg722Ter) rs886042376 0.00004
NM_014780.5(CUL7):c.4333C>T (p.Arg1445Ter) rs121918228 0.00002
NM_014780.5(CUL7):c.1648C>T (p.Arg550Ter) rs746333044 0.00001
NM_014780.5(CUL7):c.3379_3380del (p.Trp1127fs) rs730880262 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.1570-3C>A rs730880263
NM_014780.5(CUL7):c.2064-1G>A rs2150328634
NM_014780.5(CUL7):c.2150_2151insA (p.Asn719fs)
NM_014780.5(CUL7):c.2592T>G (p.Tyr864Ter) rs201406974
NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter) rs1581930130
NM_014780.5(CUL7):c.3173-1G>C rs864309521
NM_014780.5(CUL7):c.418_419del (p.Thr140fs) rs1764489246
NM_014780.5(CUL7):c.4297C>T (p.Gln1433Ter) rs377169342
NM_014780.5(CUL7):c.4451_4452del (p.Val1484fs) rs730880261
NM_014780.5(CUL7):c.4651C>T (p.Gln1551Ter)
NM_014780.5(CUL7):c.4770_4773del (p.Cys1590fs) rs2150304168
NM_014780.5(CUL7):c.652del (p.Arg218fs) rs1581962986
NM_014780.5(CUL7):c.[2164C>T;4911dup]
NM_014780.5(CUL7):c.[3129G>A;4763T>C]

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