List of variants reported as likely benign for endocrine gland neoplasm by Color Diagnostics, LLC DBA Color Health

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020975.6(RET):c.166C>A (p.Leu56Met)	rs145633958	0.00310
NM_020975.6(RET):c.225G>A (p.Thr75=)	rs151267865	0.00052
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)	rs201740483	0.00047
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)	rs148935214	0.00039
NM_001370259.2(MEN1):c.762G>A (p.Leu254=)	rs199909967	0.00018
NM_020975.6(RET):c.1017G>A (p.Ser339=)	rs369810881	0.00014
NM_020975.6(RET):c.597C>T (p.Asn199=)	rs55810667	0.00012
NM_020975.6(RET):c.3243T>C (p.Asp1081=)	rs144192900	0.00010
NM_003000.3(SDHB):c.543C>T (p.Asp181=)	rs199809975	0.00009
NM_003000.3(SDHB):c.606C>T (p.Asn202=)	rs199653121	0.00005
NM_020975.6(RET):c.1064-6C>T	rs768878280	0.00004
NM_020975.6(RET):c.1118C>T (p.Ala373Val)	rs546866208	0.00004
NM_020975.6(RET):c.2427C>T (p.Tyr809=)	rs577929869	0.00004
NM_020975.6(RET):c.693C>T (p.Arg231=)	rs576806329	0.00004
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)	rs587780841	0.00003
NM_001370259.2(MEN1):c.471G>A (p.Val157=)	rs878855194	0.00003
NM_017841.4(SDHAF2):c.6G>A (p.Ala2=)	rs747571875	0.00003
NM_020975.6(RET):c.1941C>T (p.Ile647=)	rs75225191	0.00002
NM_020975.6(RET):c.2358T>C (p.His786=)	rs758715544	0.00002
NM_020975.6(RET):c.30G>A (p.Gly10=)	rs1050242868	0.00002
NM_001370259.2(MEN1):c.1392G>A (p.Ala464=)	rs754445482	0.00001
NM_001370259.2(MEN1):c.609C>T (p.Asn203=)	rs749844029	0.00001
NM_020975.6(RET):c.2784C>T (p.Tyr928=)	rs779594537	0.00001
NM_001370259.2(MEN1):c.100C>T (p.Leu34=)	rs771554497
NM_001370259.2(MEN1):c.446-12C>T	rs369411199
NM_017841.4(SDHAF2):c.269C>T (p.Ala90Val)	rs373951663
NM_020975.6(RET):c.621G>A (p.Leu207=)	rs1343290853
NM_020975.6(RET):c.624G>T (p.Glu208Asp)	rs781750106

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.