List of variants reported as pathogenic for hematologic disorder by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00403
NM_000518.5(HBB):c.-140C>T	rs34999973	0.00004
NC_000011.10:g.5227172G>A	rs63751208	0.00003
NM_000518.5(HBB):c.51del (p.Lys18fs)	rs35662066	0.00003
NC_000011.10:g.5227157G>C	rs33994806
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)	rs33960103
NM_000518.5(HBB):c.-81A>G	rs33981098
NM_000518.5(HBB):c.380T>A (p.Val127Glu)	rs33925391
NM_000518.5(HBB):c.90C>T (p.Gly30=)	rs35578002
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	rs397518423
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs)	rs755125969
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs)	rs759536357

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