ClinVar Miner

List of variants reported as likely benign for Chediak-Higashi syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP
NM_000081.3(LYST):c.10221C>T (p.Tyr3407=)
NM_000081.3(LYST):c.11086G>A (p.Val3696Ile)
NM_000081.3(LYST):c.1384C>T (p.Pro462Ser)
NM_000081.3(LYST):c.1674G>A (p.Leu558=)
NM_000081.3(LYST):c.1686G>C (p.Gln562His) rs77091385
NM_000081.3(LYST):c.2310T>C (p.Pro770=)
NM_000081.3(LYST):c.2313G>A (p.Gln771=)
NM_000081.3(LYST):c.2754G>A (p.Glu918=)
NM_000081.3(LYST):c.281C>T (p.Thr94Ile) rs777389303
NM_000081.3(LYST):c.3324C>T (p.Ala1108=)
NM_000081.3(LYST):c.3507C>T (p.Leu1169=)
NM_000081.3(LYST):c.4377G>A (p.Pro1459=)
NM_000081.3(LYST):c.4416T>C (p.Gly1472=)
NM_000081.3(LYST):c.4566A>C (p.Ala1522=)
NM_000081.3(LYST):c.4637C>T (p.Ala1546Val)
NM_000081.3(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_000081.3(LYST):c.5883A>G (p.Gln1961=)
NM_000081.3(LYST):c.5922+10A>G
NM_000081.3(LYST):c.597C>G (p.Asp199Glu)
NM_000081.3(LYST):c.6264C>T (p.Ser2088=)
NM_000081.3(LYST):c.6279A>G (p.Pro2093=)
NM_000081.3(LYST):c.6455G>A (p.Ser2152Asn)
NM_000081.3(LYST):c.6632C>G (p.Pro2211Arg)
NM_000081.3(LYST):c.6710A>C (p.Gln2237Pro) rs138443479
NM_000081.3(LYST):c.7368T>C (p.Asn2456=) rs199631995
NM_000081.3(LYST):c.7506A>G (p.Gln2502=) rs140434436
NM_000081.3(LYST):c.777T>C (p.His259=)
NM_000081.3(LYST):c.7806A>G (p.Gln2602=)
NM_000081.3(LYST):c.7870C>T (p.Arg2624Trp) rs150306354
NM_000081.3(LYST):c.7920G>A (p.Ala2640=)
NM_000081.3(LYST):c.8497G>A (p.Ala2833Thr)
NM_000081.3(LYST):c.8624G>A (p.Arg2875His)
NM_000081.3(LYST):c.8913T>G (p.Asn2971Lys)
NM_000081.3(LYST):c.957G>A (p.Pro319=)

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.