List of variants in gene CUL4B studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 125

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HGVS	dbSNP	gnomAD frequency
NM_001079872.2(CUL4B):c.1174-20G>A	rs5957408	0.14035
NM_001079872.2(CUL4B):c.1324+15G>A	rs143921252	0.01002
NM_001079872.2(CUL4B):c.777-12C>T	rs192860595	0.00395
NM_001079872.2(CUL4B):c.2634G>A (p.Arg878=)	rs143580749	0.00390
NM_001079872.2(CUL4B):c.2161-15T>G	rs183114462	0.00355
NM_001079872.2(CUL4B):c.1257-19T>C	rs201629851	0.00205
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=)	rs148700620	0.00099
NM_003588.4(CUL4B):c.65G>A (p.Gly22Asp)	rs145808703	0.00021
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=)	rs185389157	0.00013
NM_003588.4(CUL4B):c.26G>A (p.Gly9Glu)	rs149016283	0.00013
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=)	rs751833365	0.00003
NM_001079872.2(CUL4B):c.1309G>A (p.Ala437Thr)	rs757649304	0.00002
NM_001079872.2(CUL4B):c.1722C>T (p.Ile574=)	rs142211300	0.00002
NM_001079872.2(CUL4B):c.1201A>C (p.Lys401Gln)	rs750866615	0.00001
NM_001079872.2(CUL4B):c.1324+9C>A	rs751888920	0.00001
NM_001079872.2(CUL4B):c.1444-4T>G	rs766196936	0.00001
NM_001079872.2(CUL4B):c.2266+4T>A	rs747816205	0.00001
NM_001079872.2(CUL4B):c.2593-18A>C	rs1297445532	0.00001
NM_001079872.2(CUL4B):c.889G>A (p.Val297Ile)	rs367660624	0.00001
NC_000023.11:g.120574572C>G
NC_000023.11:g.120574613A>G
NM_001079872.2(CUL4B):c.1007_1011del (p.Ile336fs)
NM_001079872.2(CUL4B):c.1030G>A (p.Ala344Thr)
NM_001079872.2(CUL4B):c.1044T>C (p.Ser348=)
NM_001079872.2(CUL4B):c.1071G>A (p.Leu357=)
NM_001079872.2(CUL4B):c.1083A>G (p.Gln361=)
NM_001079872.2(CUL4B):c.1106A>G (p.Gln369Arg)	rs1556213268
NM_001079872.2(CUL4B):c.1108C>T (p.Arg370Ter)	rs121434616
NM_001079872.2(CUL4B):c.1130G>A (p.Arg377Gln)
NM_001079872.2(CUL4B):c.1143T>G (p.Ala381=)
NM_001079872.2(CUL4B):c.1157T>C (p.Leu386Ser)	rs1300720472
NM_001079872.2(CUL4B):c.1164A>G (p.Gln388=)
NM_001079872.2(CUL4B):c.1173+16G>A
NM_001079872.2(CUL4B):c.1256+18A>T
NM_001079872.2(CUL4B):c.1256+5G>A
NM_001079872.2(CUL4B):c.1257-9del	rs746854249
NM_001079872.2(CUL4B):c.1257-9dup	rs746854249
NM_001079872.2(CUL4B):c.1308A>G (p.Thr436=)
NM_001079872.2(CUL4B):c.1386del (p.Phe462fs)	rs1602577238
NM_001079872.2(CUL4B):c.1389T>C (p.Ser463=)
NM_001079872.2(CUL4B):c.1392A>G (p.Arg464=)
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter)	rs905353542
NM_001079872.2(CUL4B):c.1399G>T (p.Gly467Cys)
NM_001079872.2(CUL4B):c.1404_1405del (p.Val469fs)	rs1556206910
NM_001079872.2(CUL4B):c.1423del (p.Gln475fs)
NM_001079872.2(CUL4B):c.1428G>A (p.Trp476Ter)	rs1924000101
NM_001079872.2(CUL4B):c.1444-1G>A
NM_001079872.2(CUL4B):c.1452C>G (p.Gly484=)
NM_001079872.2(CUL4B):c.1480G>A (p.Asp494Asn)	rs2147329944
NM_001079872.2(CUL4B):c.1588T>C (p.Phe530Leu)	rs1923920343
NM_001079872.2(CUL4B):c.1598T>G (p.Phe533Cys)	rs1923919394
NM_001079872.2(CUL4B):c.1636+11C>T
NM_001079872.2(CUL4B):c.1637-3T>A
NM_001079872.2(CUL4B):c.1651T>A (p.Ser551Thr)	rs2147328768
NM_001079872.2(CUL4B):c.1660C>T (p.Arg554Cys)	rs121434615
NM_001079872.2(CUL4B):c.1682_1683del (p.Thr561fs)	rs1057519396
NM_001079872.2(CUL4B):c.1738T>C (p.Tyr580His)	rs1923849803
NM_001079872.2(CUL4B):c.1741+4_1741+7del	rs1569389364
NM_001079872.2(CUL4B):c.1743C>T (p.Gly581=)
NM_001079872.2(CUL4B):c.1747G>T (p.Asp583Tyr)
NM_001079872.2(CUL4B):c.1786C>T (p.Arg596Cys)	rs1556200641
NM_001079872.2(CUL4B):c.1835T>C (p.Leu612Pro)	rs2147328180
NM_001079872.2(CUL4B):c.1852+1G>T	rs797044862
NM_001079872.2(CUL4B):c.1852+3A>G
NM_001079872.2(CUL4B):c.1852G>C (p.Glu618Gln)
NM_001079872.2(CUL4B):c.1853-13A>G
NM_001079872.2(CUL4B):c.1853-19G>A
NM_001079872.2(CUL4B):c.1939-19T>C
NM_001079872.2(CUL4B):c.1939-4A>G
NM_001079872.2(CUL4B):c.2023A>G (p.Met675Val)
NM_001079872.2(CUL4B):c.2046+6A>C
NM_001079872.2(CUL4B):c.2092C>T (p.His698Tyr)	rs2147325555
NM_001079872.2(CUL4B):c.2118G>A (p.Gln706=)
NM_001079872.2(CUL4B):c.2160+8G>A
NM_001079872.2(CUL4B):c.2161-15T>C	rs183114462
NM_001079872.2(CUL4B):c.2258C>T (p.Thr753Ile)
NM_001079872.2(CUL4B):c.2264_2265dup (p.Glu756Ter)
NM_001079872.2(CUL4B):c.2290C>T (p.Leu764=)
NM_001079872.2(CUL4B):c.2322T>G (p.Val774=)
NM_001079872.2(CUL4B):c.2356G>A (p.Asp786Asn)
NM_001079872.2(CUL4B):c.2390A>T (p.Lys797Ile)
NM_001079872.2(CUL4B):c.2403del (p.Phe801fs)
NM_001079872.2(CUL4B):c.2404A>T (p.Arg802Trp)
NM_001079872.2(CUL4B):c.2439+11C>A
NM_001079872.2(CUL4B):c.2506A>G (p.Ile836Val)
NM_001079872.2(CUL4B):c.2523G>C (p.Lys841Asn)	rs1556181426
NM_001079872.2(CUL4B):c.2576_2588del (p.Gln858_Leu859insTer)
NM_001079872.2(CUL4B):c.2592+3A>T
NM_001079872.2(CUL4B):c.2633G>A (p.Arg878Gln)	rs1556173896
NM_001079872.2(CUL4B):c.2650G>A (p.Asp884Asn)	rs1922994124
NM_001079872.2(CUL4B):c.2652T>G (p.Asp884Glu)	rs768424127
NM_001079872.2(CUL4B):c.2677dup (p.Tyr893fs)	rs2147314730
NM_001079872.2(CUL4B):c.557-11A>G
NM_001079872.2(CUL4B):c.573A>G (p.Pro191=)
NM_001079872.2(CUL4B):c.672+13A>G
NM_001079872.2(CUL4B):c.672+18T>C
NM_001079872.2(CUL4B):c.695A>T (p.Tyr232Phe)
NM_001079872.2(CUL4B):c.695dup (p.Tyr232Ter)
NM_001079872.2(CUL4B):c.721C>T (p.Gln241Ter)	rs1556220623
NM_001079872.2(CUL4B):c.776+12A>G
NM_001079872.2(CUL4B):c.776+13A>G
NM_001079872.2(CUL4B):c.776+7dup	rs200461872
NM_001079872.2(CUL4B):c.777-11A>G
NM_001079872.2(CUL4B):c.783A>G (p.Ser261=)
NM_001079872.2(CUL4B):c.784T>A (p.Leu262Met)	rs1379343211
NM_001079872.2(CUL4B):c.811A>T (p.Ile271Phe)
NM_001079872.2(CUL4B):c.819A>G (p.Arg273=)
NM_001079872.2(CUL4B):c.847-10del	rs762094686
NM_001079872.2(CUL4B):c.847-2A>G	rs786200913
NM_001079872.2(CUL4B):c.881G>T (p.Arg294Ile)	rs866840262
NM_001079872.2(CUL4B):c.911C>T (p.Pro304Leu)
NM_001079872.2(CUL4B):c.920+9G>A
NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)
NM_001079872.2(CUL4B):c.925A>T (p.Met309Leu)
NM_001079872.2(CUL4B):c.932T>A (p.Leu311Gln)
NM_001079872.2(CUL4B):c.951TAT[1] (p.Ile319del)	rs1556214312
NM_001079872.2(CUL4B):c.953_957del (p.Ile318fs)	rs1085307760
NM_001079872.2(CUL4B):c.954T>C (p.Ile318=)
NM_001079872.2(CUL4B):c.984A>G (p.Thr328=)
NM_001079872.2(CUL4B):c.986T>C (p.Ile329Thr)
NM_001079872.2(CUL4B):c.988G>C (p.Asp330His)
NM_001079872.2(CUL4B):c.995T>C (p.Ile332Thr)	rs1924204795
NM_003588.4(CUL4B):c.2493G>A (p.Thr831=)	rs2147321510
NM_003588.4(CUL4B):c.29A>C (p.Asp10Ala)	rs2147360370
NM_003588.4(CUL4B):c.67+10T>C

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