List of variants studied for LEOPARD syndrome 1 by Juno Genomics, Hangzhou Juno Genomics, Inc

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

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	rs121918457	0.00001
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)	rs397507539
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)	rs397507542
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)	rs397507543
NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr)	rs1052382672
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys)	rs397507506
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	rs121918466
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	rs267606990
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	rs121918456
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)	rs121918455

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.