ClinVar Miner

List of variants in gene CUL3 reported as uncertain significance for neurodevelopmental disorder

Included ClinVar conditions (795):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003590.5(CUL3):c.563A>G (p.Gln188Arg) rs991634550 0.00003
NM_003590.5(CUL3):c.1849C>G (p.Gln617Glu) rs969388164 0.00001
NM_003590.5(CUL3):c.2092G>A (p.Asp698Asn) rs371342121 0.00001
NM_003590.5(CUL3):c.532G>A (p.Val178Ile) rs1200173088 0.00001
NM_003590.5(CUL3):c.*8T>C
NM_003590.5(CUL3):c.1028A>G (p.Gln343Arg) rs1692622022
NM_003590.5(CUL3):c.1050T>C (p.Ser350=)
NM_003590.5(CUL3):c.1090C>T (p.Arg364Cys)
NM_003590.5(CUL3):c.1184A>G (p.Lys395Arg)
NM_003590.5(CUL3):c.1206+1G>T rs2106202524
NM_003590.5(CUL3):c.1206+3A>T
NM_003590.5(CUL3):c.121A>G (p.Ile41Val)
NM_003590.5(CUL3):c.1243G>A (p.Ala415Thr)
NM_003590.5(CUL3):c.1356A>G (p.Lys452=)
NM_003590.5(CUL3):c.1358dup (p.Asn453fs) rs1366667901
NM_003590.5(CUL3):c.1377+6G>T
NM_003590.5(CUL3):c.1538G>A (p.Trp513Ter) rs2469964548
NM_003590.5(CUL3):c.1561A>C (p.Lys521Gln)
NM_003590.5(CUL3):c.1605C>G (p.Phe535Leu)
NM_003590.5(CUL3):c.1609A>G (p.Arg537Gly) rs2469964203
NM_003590.5(CUL3):c.1636C>T (p.Arg546Ter) rs767240461
NM_003590.5(CUL3):c.1645A>G (p.Thr549Ala)
NM_003590.5(CUL3):c.1666T>C (p.Ser556Pro) rs2469957176
NM_003590.5(CUL3):c.1843-12A>G
NM_003590.5(CUL3):c.1914A>G (p.Lys638=)
NM_003590.5(CUL3):c.192G>A (p.Met64Ile)
NM_003590.5(CUL3):c.2039A>G (p.Lys680Arg)
NM_003590.5(CUL3):c.2086G>A (p.Asp696Asn)
NM_003590.5(CUL3):c.2102A>G (p.His701Arg)
NM_003590.5(CUL3):c.2176-9_2176-6del
NM_003590.5(CUL3):c.2195C>T (p.Ala732Val) rs745316138
NM_003590.5(CUL3):c.2270C>G (p.Thr757Arg)
NM_003590.5(CUL3):c.2293A>G (p.Thr765Ala) rs2106132875
NM_003590.5(CUL3):c.269G>A (p.Arg90Gln)
NM_003590.5(CUL3):c.383G>A (p.Arg128His) rs2106223773
NM_003590.5(CUL3):c.457C>T (p.Arg153Cys)
NM_003590.5(CUL3):c.556G>A (p.Ala186Thr)
NM_003590.5(CUL3):c.585C>G (p.Leu195=)
NM_003590.5(CUL3):c.745A>G (p.Met249Val)
NM_003590.5(CUL3):c.883+3_883+6del rs2469994698
NM_003590.5(CUL3):c.892T>G (p.Cys298Gly)
NM_003590.5(CUL3):c.980C>T (p.Ala327Val)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.