ClinVar Miner

List of variants reported as likely benign for Chediak-Higashi syndrome by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000081.3(LYST):c.11268-5delT rs36014994
NM_000081.3(LYST):c.2363+10dupT
NM_000081.3(LYST):c.3898A>G (p.Ile1300Val)
NM_000081.3(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_000081.3(LYST):c.6482A>C (p.Glu2161Ala) rs147756847
NM_000081.3(LYST):c.8487C>T (p.Ile2829=)
NM_000081.3(LYST):c.8607A>G (p.Gln2869=)

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