ClinVar Miner

List of variants reported as likely pathogenic for Hemophagocytic lymphohistiocytosis, familial, 2

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Total variants: 7
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NM_001083116.3(PRF1):c.1120T>G (p.Trp374Gly) rs1060499556
NM_001083116.3(PRF1):c.1175del (p.Pro392fs) rs1554867753
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) rs138126912
NM_001083116.3(PRF1):c.1337A>C (p.Gln446Pro) rs751161742
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met) rs189650890
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) rs768849283
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser) rs147462227

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