ClinVar Miner

List of variants studied for Autoinflammation, immune dysregulation, and eosinophilia

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002227.4(JAK1):c.1951G>A (p.Val651Met) rs149968614 0.00093
NM_002227.4(JAK1):c.1516C>T (p.Arg506Cys) rs61735631 0.00068
NM_002227.4(JAK1):c.1078C>T (p.Arg360Trp) rs200049537 0.00014
NM_002227.4(JAK1):c.426G>T (p.Lys142Asn) rs747560156 0.00004
NM_002227.4(JAK1):c.145C>T (p.Arg49Trp) rs754991396 0.00003
NM_001321852.2(JAK1):c.-78+60494G>T rs2100762085
NM_002227.4(JAK1):c.1567A>C (p.Met523Leu)
NM_002227.4(JAK1):c.1786C>G (p.His596Asp)
NM_002227.4(JAK1):c.1901C>A (p.Ala634Asp) rs869312953
NM_002227.4(JAK1):c.2108G>T (p.Ser703Ile) rs1655173102
NM_002227.4(JAK1):c.2198C>T (p.Pro733Leu)
NM_002227.4(JAK1):c.2425C>T (p.Arg809Trp)
NM_002227.4(JAK1):c.410G>T (p.Gly137Val)
NM_002227.4(JAK1):c.439A>G (p.Thr147Ala)

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