List of variants studied for endocrine gland neoplasm by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly)	rs104894342	0.00001
NM_000701.8(ATP1A1):c.299_313del (p.Phe100_Leu104del)	rs724160008
NM_000701.8(ATP1A1):c.311T>G (p.Leu104Arg)	rs11540945
NM_000701.8(ATP1A1):c.995T>G (p.Val332Gly)	rs724160010
NM_001001344.3(ATP2B3):c.1272_1277del (p.Leu425_Val426del)	rs724160009
NM_001001344.3(ATP2B3):c.1273_1278del (p.Leu425_Val426del)	rs724160011
NM_001001344.3(ATP2B3):c.1277_1282del (p.Val426_Val427del)	rs724160012
NM_004366.6(CLCN2):c.71G>A (p.Gly24Asp)	rs1085307938
NM_005154.3(USP8):c.[2138T>G;2150A>G]
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro)	rs672601307
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del)	rs672601306
NM_005154.5(USP8):c.2153C>G (p.Ser718Cys)	rs672601308
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg)	rs672601311
NM_020638.3(FGF23):c.367G>T (p.Gly123Trp)	rs1220533001
NM_020638.3(FGF23):c.385T>C (p.Ser129Pro)	rs1555096583

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.