List of variants reported by Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_145307.4(RTKN2):c.952dup (p.Tyr318fs)	rs563733406	0.00007
NM_173842.3(IL1RN):c.63A>G (p.Ser21=)	rs763872895	0.00002
NM_002421.4(MMP1):c.988del (p.Ala330fs)	rs753853224	0.00001
NM_198253.3(TERT):c.2594G>A (p.Arg865His)	rs121918666	0.00001
NM_000921.5(PDE3A):c.1346G>A (p.Gly449Asp)	rs794726868
NM_001283009.2(RTEL1):c.3559C>T (p.Gln1187Ter)	rs776525427
NM_001283009.2(RTEL1):c.388_389del (p.Ser130fs)	rs1555899640
NM_002429.6(MMP19):c.1155T>A (p.Tyr385Ter)	rs1555176616
NM_022081.6(HPS4):c.1102dup (p.Asp368fs)	rs1555898206
NM_025099.6(CTC1):c.400dup (p.Tyr134fs)	rs1555535288
NM_032122.5(DTNBP1):c.286G>T (p.Glu96Ter)	rs1415761555
NM_198129.4(LAMA3):c.2116C>T (p.Arg706Ter)	rs759225610
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)	rs199422294

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.