ClinVar Miner

List of variants studied for periodic fever, immunodeficiency, and thrombocytopenia syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_017491.5(WDR1):c.1270G>A (p.Val424Met) rs769254295 0.00001
NM_017491.5(WDR1):c.856C>G (p.Leu286Val) rs771058795 0.00001
NM_017491.5(WDR1):c.16AAG[1] (p.Lys7del) rs1713714520
NM_017491.5(WDR1):c.1715A>T (p.Asp572Val) rs1764766492
NM_017491.5(WDR1):c.361G>A (p.Gly121Arg) rs1712525349
NM_017491.5(WDR1):c.435C>G (p.His145Gln) rs1712442528
NM_017491.5(WDR1):c.76G>A (p.Asp26Asn) rs1242111691
NM_017491.5(WDR1):c.877C>T (p.Leu293Phe) rs1711679334

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