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

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_005720.4(ARPC1B):c.64+1G>A	rs111297226	0.00001
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
NM_005720.4(ARPC1B):c.763_764del (p.Asp255fs)	rs1584410808
NM_005720.4(ARPC1B):c.783G>A (p.Ala261=)	rs779597975

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