ClinVar Miner

List of variants reported as pathogenic for platelet abnormalities with eosinophilia and immune-mediated inflammatory disease by OMIM

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NC_000007.14:g.99369754_99378887del
NM_005720.4(ARPC1B):c.1087dup (p.Glu363fs) rs1256029497
NM_005720.4(ARPC1B):c.268_269dup (p.Val91fs) rs1794454006
NM_005720.4(ARPC1B):c.314C>T (p.Ala105Val) rs1186149065
NM_005720.4(ARPC1B):c.491_495delinsCCTGCCC (p.Phe164fs) rs1794516424
NM_005720.4(ARPC1B):c.622G>T (p.Val208Phe) rs371760619
NM_005720.4(ARPC1B):c.624_625del (p.Cys209fs) rs1794553748
NM_005720.4(ARPC1B):c.64+1G>C rs111297226
NM_005720.4(ARPC1B):c.739_743del (p.Leu247fs) rs760191638

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