List of variants in gene LYST reported as pathogenic for Chediak-Higashi syndrome, childhood type

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

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000081.4(LYST):c.118dup (p.Ala40fs)	rs80338642
NM_000081.4(LYST):c.1467del (p.Glu489fs)	rs80338644
NM_000081.4(LYST):c.148C>T (p.Arg50Ter)	rs80338643
NM_000081.4(LYST):c.1902dup (p.Ala635fs)	rs80338646
NM_000081.4(LYST):c.2623del (p.Tyr875fs)	rs80338649
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter)	rs80338651
NM_000081.4(LYST):c.9590del (p.Tyr3197fs)	rs80338667

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