List of variants studied for Myeloproliferative disorder

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)	rs77375493	0.00036
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln)	rs267606708	0.00002
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)	rs121913485
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met)	rs199544087
NM_001288705.3(CSF1R):c.1711T>G (p.Tyr571Asp)	rs1057519802
NM_004972.4(JAK2):c.1691G>T (p.Arg564Leu)	rs368927897
NM_004972.4(JAK2):c.2047A>G (p.Arg683Gly)	rs1057519721
NM_004972.4(JAK2):c.2624C>A (p.Thr875Asn)	rs1057520016
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys)	rs147828672

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.