ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000081.3(LYST):c.*446T>C
NM_000081.3(LYST):c.*685G>T
NM_000081.3(LYST):c.-134G>C
NM_000081.3(LYST):c.11268-6_11268-5delTT
NM_000081.3(LYST):c.2316C>T (p.Asp772=) rs16832868
NM_000081.3(LYST):c.2355T>C (p.Leu785=) rs3768066
NM_000081.3(LYST):c.3050G>A (p.Ser1017Asn) rs10465613
NM_000081.3(LYST):c.3989A>C (p.Asp1330Ala) rs74641549
NM_000081.3(LYST):c.4392C>T (p.Asn1464=) rs11583387
NM_000081.3(LYST):c.574T>G (p.Leu192Val) rs7524261
NM_000081.3(LYST):c.5847G>C (p.Gln1949His) rs6665568
NM_000081.3(LYST):c.6122-13delA rs201404906
NM_000081.3(LYST):c.6630A>G (p.Glu2210=) rs34466404
NM_000081.3(LYST):c.6900G>A (p.Leu2300=) rs10926586
NM_000081.3(LYST):c.7137A>C (p.Leu2379=) rs61738992
NM_000081.3(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241
NM_000081.3(LYST):c.7857T>C (p.His2619=) rs34160788
NM_000081.3(LYST):c.8411G>A (p.Gly2804Asp) rs35333195

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