List of variants reported as pathogenic for Severe congenital neutropenia by Genomics Facility, Ludwig-Maximilians-Universität München

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_015122.3(FCHO1):c.489+1G>A	rs2091196149	0.00001
NM_015122.3(FCHO1):c.100G>C (p.Ala34Pro)	rs2086875746
NM_015122.3(FCHO1):c.1948C>T (p.Arg650Ter)	rs1336566500
NM_015122.3(FCHO1):c.195-2A>C	rs2089298923
NM_015122.3(FCHO1):c.2023dup (p.Val675fs)	rs2093571190
NM_015122.3(FCHO1):c.2036G>C (p.Arg679Pro)	rs530286781

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