List of variants studied for spondyloepiphyseal dysplasia tarda, X-linked by OMIM

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_001011658.4(TRAPPC2):c.157_158del (p.Met53fs)	rs587776750
NM_001011658.4(TRAPPC2):c.191_192del (p.Val64fs)	rs587776749
NM_001011658.4(TRAPPC2):c.238+4T>C	rs587776753
NM_001011658.4(TRAPPC2):c.239-11_239-9del	rs587777330
NM_001011658.4(TRAPPC2):c.248T>C (p.Phe83Ser)	rs104894948
NM_001011658.4(TRAPPC2):c.271_275del (p.Gln91fs)	rs587776751
NM_001011658.4(TRAPPC2):c.329C>A (p.Ser110Ter)	rs104894949
NM_001011658.4(TRAPPC2):c.387del (p.Val130fs)	rs587776754
NM_001011658.4(TRAPPC2):c.391C>T (p.Gln131Ter)	rs122460156
NM_001011658.4(TRAPPC2):c.53_54del (p.Val17_Phe18insTer)	rs587776748
NM_001011658.4(TRAPPC2):c.93+5G>A	rs587776752

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.