ClinVar Miner

List of variants studied for Familial hemophagocytic lymphohistiocytosis 2 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser) rs768849283 0.00007
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys) rs200430442 0.00005
NM_001083116.3(PRF1):c.542T>C (p.Phe181Ser) rs770131011 0.00002
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp) rs28933973 0.00001
NM_001083116.3(PRF1):c.694C>T (p.Arg232Cys) rs550073023 0.00001
NM_001083116.3(PRF1):c.47C>T (p.Pro16Leu) rs751379475
NM_001083116.3(PRF1):c.647T>C (p.Ile216Thr)

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