List of variants in gene CUL7 reported as likely pathogenic for autosomal recessive disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 22

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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.2965T>G (p.Tyr989Asp)	rs1295466248	0.00001
NM_014780.5(CUL7):c.4763T>C (p.Leu1588Pro)	rs759300846	0.00001
NM_014780.5(CUL7):c.1482G>A (p.Trp494Ter)	rs1561892336
NM_014780.5(CUL7):c.1563_1569+5del
NM_014780.5(CUL7):c.1838del (p.Pro613fs)
NM_014780.5(CUL7):c.206dup (p.Met69fs)	rs1561898352
NM_014780.5(CUL7):c.2398-2A>G
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.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.649_654del (p.Ser217_Arg218del)	rs1340929933

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