ClinVar Miner

List of variants reported as likely benign for Chediak-Higashi syndrome by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000081.3(LYST):c.10800+4G>T rs41308172
NM_000081.3(LYST):c.10941-7C>A rs72761794
NM_000081.3(LYST):c.3507C>T (p.Leu1169=)
NM_000081.3(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_000081.3(LYST):c.7506A>G (p.Gln2502=) rs140434436
NM_001301365.1(LYST):c.2363+10dup

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