ClinVar Miner

List of variants studied for Chediak-Higashi syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile) rs146591126 0.00669
NM_000081.4(LYST):c.4863-19T>C rs150288597 0.00393
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys) rs150636017 0.00049
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg) rs147899661 0.00032
NM_000081.4(LYST):c.6782G>A (p.Arg2261His) rs147791378 0.00031
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln) rs150953050 0.00029
NM_000081.4(LYST):c.368A>G (p.His123Arg) rs3768067 0.00027
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp) rs140944484 0.00022
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln) rs148299757 0.00011
NM_000081.4(LYST):c.8779A>T (p.Ile2927Phe) rs554841002 0.00010
NM_000081.4(LYST):c.1390G>A (p.Glu464Lys) rs374284011 0.00004
NM_000081.4(LYST):c.4705A>C (p.Asn1569His) rs767687843 0.00004
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly) rs140284566 0.00003
NM_000081.4(LYST):c.6718C>T (p.His2240Tyr) rs186152859 0.00003
NM_000081.4(LYST):c.2870T>C (p.Met957Thr) rs201554916 0.00002
NM_000081.4(LYST):c.5578A>G (p.Met1860Val) rs368738466 0.00001
NM_000081.4(LYST):c.5620T>A (p.Phe1874Ile) rs757494655 0.00001
NM_000081.4(LYST):c.10468G>A (p.Gly3490Arg)
NM_000081.4(LYST):c.10525C>T (p.Arg3509Trp)
NM_000081.4(LYST):c.109A>G (p.Thr37Ala)
NM_000081.4(LYST):c.1259C>T (p.Ala420Val)
NM_000081.4(LYST):c.1676G>A (p.Arg559His)
NM_000081.4(LYST):c.2192A>G (p.Tyr731Cys)
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
NM_000081.4(LYST):c.2363+7A>T
NM_000081.4(LYST):c.2480T>A (p.Leu827Gln)
NM_000081.4(LYST):c.3014A>G (p.His1005Arg)
NM_000081.4(LYST):c.3134G>A (p.Ser1045Asn)
NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)
NM_000081.4(LYST):c.4376C>T (p.Pro1459Leu)
NM_000081.4(LYST):c.5135T>C (p.Ile1712Thr)
NM_000081.4(LYST):c.5461-3del rs557545474
NM_000081.4(LYST):c.5598C>G (p.Ile1866Met)
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
NM_000081.4(LYST):c.6476G>A (p.Gly2159Asp)
NM_000081.4(LYST):c.6673C>A (p.Arg2225Ser)
NM_000081.4(LYST):c.6794TTG[1] (p.Val2266del)
NM_000081.4(LYST):c.7310C>G (p.Ser2437Cys)
NM_000081.4(LYST):c.7461-11_7461-9del rs777633676
NM_000081.4(LYST):c.7994A>G (p.Asp2665Gly)
NM_000081.4(LYST):c.8426A>G (p.Glu2809Gly)
NM_000081.4(LYST):c.8510C>T (p.Ala2837Val)
NM_000081.4(LYST):c.8980G>A (p.Glu2994Lys)
NM_000081.4(LYST):c.9332A>G (p.Tyr3111Cys)
NM_000081.4(LYST):c.9410C>A (p.Thr3137Asn)

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