List of variants reported as benign for Chediak-Higashi syndrome by Illumina Laboratory Services, Illumina

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Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_000081.4(LYST):c.1251A>G (p.Gln417=)	rs1063128	0.41864
NM_000081.4(LYST):c.1683A>G (p.Leu561=)	rs3820553	0.41844
NM_000081.4(LYST):c.4956A>G (p.Leu1652=)	rs6696123	0.41826
NM_000081.4(LYST):c.5373G>A (p.Lys1791=)	rs2273584	0.41769
NM_000081.4(LYST):c.153A>C (p.Gly51=)	rs11464	0.13219
NM_000081.4(LYST):c.2316C>T (p.Asp772=)	rs16832868	0.05899
NM_000081.4(LYST):c.5847G>C (p.Gln1949His)	rs6665568	0.05891
NM_000081.4(LYST):c.6630A>G (p.Glu2210=)	rs34466404	0.05877
NM_000081.4(LYST):c.574T>G (p.Leu192Val)	rs7524261	0.04386
NM_000081.4(LYST):c.8411G>A (p.Gly2804Asp)	rs35333195	0.04044
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala)	rs74641549	0.04030
NM_000081.4(LYST):c.3050G>A (p.Ser1017Asn)	rs10465613	0.03661
NM_000081.4(LYST):c.7857T>C (p.His2619=)	rs34160788	0.02966
NM_000081.4(LYST):c.6900G>A (p.Leu2300=)	rs10926586	0.02954
NM_000081.4(LYST):c.7793T>A (p.Phe2598Tyr)	rs34642241	0.02388
NM_000081.4(LYST):c.7059+7G>A	rs111764031	0.00582
NM_000081.4(LYST):c.6812A>G (p.Asp2271Gly)	rs112601869	0.00580
NM_000081.4(LYST):c.8898T>C (p.Tyr2966=)	rs144475533	0.00560
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala)	rs115330112	0.00485
NM_000081.4(LYST):c.2908A>C (p.Ile970Leu)	rs539146732	0.00001
NM_000081.4(LYST):c.6216A>G (p.Val2072=)	rs371248013	0.00001
NM_000081.4(LYST):c.*1275T>C
NM_000081.4(LYST):c.*1499G>T
NM_000081.4(LYST):c.*1723A>G
NM_000081.4(LYST):c.*446T>C
NM_000081.4(LYST):c.*685G>T
NM_000081.4(LYST):c.*725G>A
NM_000081.4(LYST):c.-134G>C

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