ClinVar Miner

List of variants in gene CUL7 studied for Inborn genetic diseases

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_014780.5(CUL7):c.1859C>T (p.Pro620Leu) rs147326417 0.00115
NM_014780.5(CUL7):c.1067G>A (p.Arg356His) rs146227929 0.00114
NM_014780.5(CUL7):c.2318G>A (p.Arg773Gln) rs144619494 0.00047
NM_014780.5(CUL7):c.5080T>G (p.Phe1694Val) rs150979209 0.00031
NM_014780.5(CUL7):c.1412A>G (p.Tyr471Cys) rs140873141 0.00019
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_014780.5(CUL7):c.3443G>A (p.Arg1148Gln) rs370939648 0.00011
NM_014780.5(CUL7):c.2957G>A (p.Arg986His) rs201345667 0.00010
NM_014780.5(CUL7):c.548G>A (p.Arg183Gln) rs200468701 0.00009
NM_014780.5(CUL7):c.4625G>A (p.Arg1542Gln) rs189054608 0.00006
NM_014780.5(CUL7):c.509T>G (p.Leu170Trp) rs138430226 0.00006
NM_014780.5(CUL7):c.2636A>G (p.His879Arg) rs370670484 0.00005
NM_014780.5(CUL7):c.4919G>A (p.Arg1640Gln) rs773657593 0.00005
NM_014780.5(CUL7):c.150G>C (p.Glu50Asp) rs769723202 0.00004
NM_014780.5(CUL7):c.2947C>T (p.Arg983Cys) rs147713438 0.00004
NM_014780.5(CUL7):c.3310G>A (p.Glu1104Lys) rs765477014 0.00004
NM_014780.5(CUL7):c.427G>A (p.Val143Met) rs745425209 0.00004
NM_014780.5(CUL7):c.935G>A (p.Arg312His) rs201422720 0.00002
NM_014780.5(CUL7):c.1907T>C (p.Leu636Pro) rs955472057 0.00001
NM_014780.5(CUL7):c.3280C>T (p.Arg1094Cys) rs780878899 0.00001
NM_014780.5(CUL7):c.3568C>T (p.Arg1190Trp) rs902734461 0.00001
NM_014780.5(CUL7):c.4717C>T (p.Arg1573Ter) rs749509661 0.00001
NM_014780.5(CUL7):c.1034C>T (p.Ala345Val)
NM_014780.5(CUL7):c.1159G>C (p.Asp387His)
NM_014780.5(CUL7):c.1331A>T (p.Asp444Val)
NM_014780.5(CUL7):c.140G>A (p.Arg47His)
NM_014780.5(CUL7):c.140G>T (p.Arg47Leu) rs535734678
NM_014780.5(CUL7):c.158G>A (p.Gly53Glu)
NM_014780.5(CUL7):c.1609A>C (p.Ile537Leu)
NM_014780.5(CUL7):c.1613A>C (p.Glu538Ala)
NM_014780.5(CUL7):c.163T>C (p.Ser55Pro)
NM_014780.5(CUL7):c.16C>A (p.Arg6Ser) rs758991893
NM_014780.5(CUL7):c.1817A>G (p.Lys606Arg)
NM_014780.5(CUL7):c.1913T>G (p.Leu638Arg) rs773760638
NM_014780.5(CUL7):c.19T>G (p.Tyr7Asp)
NM_014780.5(CUL7):c.2288T>C (p.Leu763Pro)
NM_014780.5(CUL7):c.2300A>G (p.Glu767Gly)
NM_014780.5(CUL7):c.2389T>C (p.Cys797Arg)
NM_014780.5(CUL7):c.2495G>A (p.Ser832Asn)
NM_014780.5(CUL7):c.2558C>G (p.Ala853Gly)
NM_014780.5(CUL7):c.260A>G (p.Gln87Arg)
NM_014780.5(CUL7):c.2660+1G>C rs765870874
NM_014780.5(CUL7):c.2792G>A (p.Arg931Gln)
NM_014780.5(CUL7):c.2851C>T (p.Arg951Cys)
NM_014780.5(CUL7):c.2932C>T (p.Arg978Trp)
NM_014780.5(CUL7):c.3010C>G (p.Arg1004Gly)
NM_014780.5(CUL7):c.3046G>A (p.Gly1016Ser)
NM_014780.5(CUL7):c.3173A>G (p.Asp1058Gly)
NM_014780.5(CUL7):c.3245C>T (p.Pro1082Leu)
NM_014780.5(CUL7):c.3257G>A (p.Gly1086Asp)
NM_014780.5(CUL7):c.3386C>T (p.Ser1129Phe)
NM_014780.5(CUL7):c.3410G>A (p.Ser1137Asn)
NM_014780.5(CUL7):c.3442C>T (p.Arg1148Trp)
NM_014780.5(CUL7):c.3499G>T (p.Asp1167Tyr)
NM_014780.5(CUL7):c.367C>G (p.Arg123Gly)
NM_014780.5(CUL7):c.3779T>C (p.Ile1260Thr)
NM_014780.5(CUL7):c.3842C>T (p.Ser1281Leu)
NM_014780.5(CUL7):c.3946C>T (p.Arg1316Cys)
NM_014780.5(CUL7):c.4079G>A (p.Gly1360Glu)
NM_014780.5(CUL7):c.4184C>T (p.Ser1395Phe)
NM_014780.5(CUL7):c.4907G>A (p.Arg1636His)
NM_014780.5(CUL7):c.4951A>C (p.Thr1651Pro)
NM_014780.5(CUL7):c.5029C>A (p.Gln1677Lys)
NM_014780.5(CUL7):c.688C>T (p.Leu230Phe)
NM_014780.5(CUL7):c.931A>G (p.Met311Val)

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