List of variants reported as pathogenic for immune system disorder by Blood Cell Research, Sanquin

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000101.4(CYBA):c.246del (p.Phe83fs)	rs1439134665
NM_000101.4(CYBA):c.288-15C>G	rs1567608853
NM_003664.4(AP3B1):c.1839_1842delTAGA
NM_003664.5(AP3B1):c.1754del (p.Val585fs)	rs869312836
NM_003664.5(AP3B1):c.177del (p.Lys59fs)	rs869312838
NM_003664.5(AP3B1):c.2702C>G (p.Ser901Cys)	rs869312835
NM_003664.5(AP3B1):c.716G>A (p.Trp239Ter)	rs869312837

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