ClinVar Miner

List of variants studied for hemophagocytic syndrome by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000081.4(LYST):c.10610T>G (p.Leu3537Arg)
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)
NM_003764.4(STX11):c.429G>T (p.Met143Ile)

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