ClinVar Miner

List of variants studied for Chediak-Higashi syndrome by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP
NM_001301365.1(LYST):c.10941-7C>A rs72761794
NM_001301365.1(LYST):c.11268-5del rs36014994
NM_001301365.1(LYST):c.2363+10dup
NM_001301365.1(LYST):c.3898A>G (p.Ile1300Val)
NM_001301365.1(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_001301365.1(LYST):c.6482A>C (p.Glu2161Ala) rs147756847
NM_001301365.1(LYST):c.8487C>T (p.Ile2829=)
NM_001301365.1(LYST):c.8607A>G (p.Gln2869=)
NM_001301365.1(LYST):c.8980G>A (p.Glu2994Lys)

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