ClinVar Miner

List of variants in gene CUL3 studied for neurodevelopmental disorder

Included ClinVar conditions (779):
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Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_003590.5(CUL3):c.1581A>T (p.Ala527=) rs41373148 0.01485
NM_003590.5(CUL3):c.2052C>T (p.Ser684=) rs61743301 0.01372
NM_003590.5(CUL3):c.2029+14T>C rs201363693 0.00183
NM_003590.5(CUL3):c.883+13G>C rs147823056 0.00061
NM_003590.5(CUL3):c.264+9C>T rs200018000 0.00039
NM_003590.5(CUL3):c.543C>T (p.Gly181=) rs17480168 0.00011
NM_003590.5(CUL3):c.563A>G (p.Gln188Arg) rs991634550 0.00003
NM_003590.5(CUL3):c.1028A>G (p.Gln343Arg) rs1692622022
NM_003590.5(CUL3):c.1035_1036dup (p.Leu346fs)
NM_003590.5(CUL3):c.1053del (p.Arg351fs)
NM_003590.5(CUL3):c.1156_1159delinsTC (p.Glu386fs)
NM_003590.5(CUL3):c.1206+1G>T rs2106202524
NM_003590.5(CUL3):c.1349del (p.Ser450fs)
NM_003590.5(CUL3):c.1358dup (p.Asn453fs) rs1366667901
NM_003590.5(CUL3):c.1374_1377dup (p.Thr460fs)
NM_003590.5(CUL3):c.1419_1425delinsTAAAC (p.Met473fs)
NM_003590.5(CUL3):c.1538G>A (p.Trp513Ter)
NM_003590.5(CUL3):c.1609A>G (p.Arg537Gly)
NM_003590.5(CUL3):c.1629_1630del (p.His543fs)
NM_003590.5(CUL3):c.1636C>T (p.Arg546Ter) rs767240461
NM_003590.5(CUL3):c.1666T>C (p.Ser556Pro)
NM_003590.5(CUL3):c.2092G>A (p.Asp698Asn)
NM_003590.5(CUL3):c.2246T>C (p.Ile749Thr) rs1559332999
NM_003590.5(CUL3):c.2293A>G (p.Thr765Ala)
NM_003590.5(CUL3):c.247G>T (p.Glu83Ter)
NM_003590.5(CUL3):c.264+2T>G
NM_003590.5(CUL3):c.287C>G (p.Ser96Ter)
NM_003590.5(CUL3):c.382C>T (p.Arg128Cys)
NM_003590.5(CUL3):c.383G>A (p.Arg128His) rs2106223773
NM_003590.5(CUL3):c.443G>C (p.Arg148Pro)
NM_003590.5(CUL3):c.493_494del (p.Leu165fs) rs1553523940
NM_003590.5(CUL3):c.532G>A (p.Val178Ile) rs1200173088
NM_003590.5(CUL3):c.562C>T (p.Gln188Ter) rs2106221030
NM_003590.5(CUL3):c.567_574del (p.Met189fs)
NM_003590.5(CUL3):c.578T>G (p.Leu193Ter) rs2106220962
NM_003590.5(CUL3):c.652C>T (p.Gln218Ter)
NM_003590.5(CUL3):c.739C>T (p.Arg247Ter) rs201496024
NM_003590.5(CUL3):c.883+3_883+6del
NM_003590.5(CUL3):c.909dup (p.Ser304Ter)

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