List of variants reported as pathogenic for hematologic disorder by Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_006846.4(SPINK5):c.891C>T (p.Cys297=)	rs752941297	0.00004
NM_024675.4(PALB2):c.395del (p.Val132fs)	rs180177085	0.00001
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)	rs80359525
NM_001042492.3(NF1):c.288+1G>A	rs1567816131
NM_001754.5(RUNX1):c.796C>T (p.Gln266Ter)
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter)	rs1572018284
NM_006118.4(HAX1):c.430dup (p.Val144fs)	rs770288337
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter)	rs1553770510
NM_139276.3(STAT3):c.454C>T (p.Arg152Trp)	rs869312890
NM_152564.5(VPS13B):c.3666+2T>C	rs386834082

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