List of variants studied for autosomal dominant brachyolmia by Fulgent Genetics, Fulgent Genetics

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

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_021625.5(TRPV4):c.854-5C>T	rs116401333	0.02337
NM_021625.5(TRPV4):c.1153-10C>T	rs149541389	0.00547
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu)	rs779715512	0.00015
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys)	rs199624080	0.00005
NM_021625.5(TRPV4):c.190C>T (p.Arg64Ter)	rs372452565	0.00004
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg)	rs201132615	0.00002
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn)	rs770149544	0.00001
NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser)	rs375851168	0.00001
NM_021625.5(TRPV4):c.2471C>T (p.Ser824Leu)	rs764622721	0.00001
NM_021625.5(TRPV4):c.569C>T (p.Thr190Met)	rs1031096826
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	rs267607144

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.