List of variants reported as uncertain significance for autosomal recessive osteopetrosis 1 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)	rs140963213	0.00275
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=)	rs141859450	0.00162
NM_006019.4(TCIRG1):c.707C>T (p.Thr236Met)	rs116001129	0.00026
NM_006019.4(TCIRG1):c.1883G>A (p.Arg628Gln)	rs201661352	0.00020
NM_006019.4(TCIRG1):c.629C>T (p.Thr210Met)	rs372826788	0.00015
NM_006019.4(TCIRG1):c.1978C>T (p.Arg660Cys)	rs528045019	0.00009
NM_006019.4(TCIRG1):c.851G>A (p.Arg284Gln)	rs146244480	0.00008
NM_006019.4(TCIRG1):c.1382A>G (p.Tyr461Cys)	rs771395837	0.00007
NM_006019.4(TCIRG1):c.1020G>A (p.Ser340=)	rs144158792	0.00006
NM_006019.4(TCIRG1):c.1061G>C (p.Cys354Ser)	rs369222109	0.00006
NM_006019.4(TCIRG1):c.1981C>T (p.Arg661Cys)	rs770889100	0.00006
NM_006019.4(TCIRG1):c.2344G>A (p.Val782Met)	rs779910642	0.00005
NM_006019.4(TCIRG1):c.763G>A (p.Gly255Arg)	rs376201635	0.00005
NM_006019.4(TCIRG1):c.1627G>A (p.Val543Ile)	rs763319140	0.00004
NM_006019.4(TCIRG1):c.1438G>A (p.Ala480Thr)	rs537359796	0.00003
NM_006019.4(TCIRG1):c.1087C>T (p.Arg363Cys)	rs375809635	0.00002
NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val)	rs377034463	0.00002
NM_006019.4(TCIRG1):c.1088G>A (p.Arg363His)	rs755474518	0.00001
NM_006019.4(TCIRG1):c.16C>T (p.Arg6Trp)	rs563996115	0.00001
NM_006019.4(TCIRG1):c.1985G>A (p.Arg662His)	rs763065648	0.00001
NM_006019.4(TCIRG1):c.260C>T (p.Pro87Leu)	rs982462013	0.00001
NM_006019.4(TCIRG1):c.911T>C (p.Leu304Pro)	rs1449131788	0.00001
NM_006019.4(TCIRG1):c.991G>A (p.Ala331Thr)	rs773402451	0.00001
NM_006019.4(TCIRG1):c.1630G>A (p.Val544Met)	rs371505143
NM_006019.4(TCIRG1):c.656T>C (p.Phe219Ser)	rs748465503

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.