ClinVar Miner

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

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Total variants: 7
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NM_000081.3(LYST):c.118dup (p.Ala40fs) rs80338642
NM_000081.3(LYST):c.1467del (p.Glu489fs) rs80338644
NM_000081.3(LYST):c.148C>T (p.Arg50Ter) rs80338643
NM_000081.3(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.3(LYST):c.9590del (p.Tyr3197fs) rs80338667
NM_001301365.1(LYST):c.1902dup (p.Ala635fs) rs80338646
NM_001301365.1(LYST):c.2623del (p.Tyr875fs) rs80338649

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