ClinVar Miner

List of variants in gene SETD2 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014159.6(SETD2):c.4457_4460del rs1553699115
NM_014159.7(SETD2):c.1048_1049del (p.Asp350fs) rs1575818503
NM_014159.7(SETD2):c.1289_1290del (p.Asp429_Ser430insTer) rs1575817869
NM_014159.7(SETD2):c.1748_1751del (p.Lys583fs) rs2043159037
NM_014159.7(SETD2):c.1771C>T (p.Gln591Ter)
NM_014159.7(SETD2):c.1828_1829del (p.Glu610fs) rs2043155739
NM_014159.7(SETD2):c.2028del (p.Pro677fs) rs869025572
NM_014159.7(SETD2):c.2742_2743dup (p.Lys915fs) rs1553700642
NM_014159.7(SETD2):c.2749dup (p.Ser917fs)
NM_014159.7(SETD2):c.3439C>T (p.Gln1147Ter)
NM_014159.7(SETD2):c.3671dup (p.Asn1224fs) rs2043056964
NM_014159.7(SETD2):c.4180G>T (p.Glu1394Ter) rs2107741763
NM_014159.7(SETD2):c.4375C>T (p.Arg1459Ter) rs2107739635
NM_014159.7(SETD2):c.4486C>T (p.Arg1496Ter) rs2107728809
NM_014159.7(SETD2):c.4774C>T (p.Arg1592Ter) rs1057518410
NM_014159.7(SETD2):c.4792C>T (p.Arg1598Ter) rs2107696360
NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys) rs1559720382
NM_014159.7(SETD2):c.5177del (p.Gly1726fs) rs2107651620
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014159.7(SETD2):c.5219G>A (p.Arg1740Gln) rs2107651195
NM_014159.7(SETD2):c.5236G>T (p.Glu1746Ter) rs2107651058
NM_014159.7(SETD2):c.5278-1G>C rs2107646414
NM_014159.7(SETD2):c.5444T>G (p.Leu1815Trp) rs869025570
NM_014159.7(SETD2):c.5635C>T (p.Arg1879Cys) rs1575744958
NM_014159.7(SETD2):c.5761G>T (p.Glu1921Ter) rs2041433287
NM_014159.7(SETD2):c.5945dup (p.Asp1982fs)
NM_014159.7(SETD2):c.6069T>A (p.Tyr2023Ter) rs2107600390
NM_014159.7(SETD2):c.6325C>T (p.Arg2109Ter)
NM_014159.7(SETD2):c.6341del (p.Asn2114fs) rs869025569
NM_014159.7(SETD2):c.6712_6718del (p.Ser2238fs) rs2107575654
NM_014159.7(SETD2):c.6844_6845del (p.Val2282fs)
NM_014159.7(SETD2):c.7438_7439insG (p.Gln2480fs) rs1559634490
NM_014159.7(SETD2):c.820C>T (p.Gln274Ter) rs869025571

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.