List of variants reported as uncertain significance for Chédiak-Higashi syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp)	rs150306354	0.00280
NM_000081.4(LYST):c.2363+4T>C	rs201398337	0.00252
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser)	rs145553827	0.00171
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)	rs138443479	0.00148
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile)	rs2753327	0.00052
NM_000081.4(LYST):c.8779A>T (p.Ile2927Phe)	rs554841002	0.00010
NM_000081.4(LYST):c.281C>T (p.Thr94Ile)	rs777389303	0.00009
NM_000081.4(LYST):c.6185G>A (p.Gly2062Glu)	rs756651685	0.00004
NM_000081.4(LYST):c.11167G>T (p.Ala3723Ser)
NM_000081.4(LYST):c.11392T>C (p.Tyr3798His)
NM_000081.4(LYST):c.1829A>T (p.His610Leu)
NM_000081.4(LYST):c.2768C>T (p.Ser923Leu)
NM_000081.4(LYST):c.3203A>G (p.Gln1068Arg)
NM_000081.4(LYST):c.3536A>G (p.Asn1179Ser)
NM_000081.4(LYST):c.3940-17dup
NM_000081.4(LYST):c.6142A>G (p.Lys2048Glu)
NM_000081.4(LYST):c.7647G>A (p.Gln2549=)

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.