List of variants studied for anemia by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.93-23T>C	rs111851677	0.00593
NM_000518.5(HBB):c.316-70C>G	rs193922560	0.00099
NM_000518.5(HBB):c.316-179A>C	rs185607297	0.00009
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
NM_000518.5(HBB):c.93-40C>T	rs556727592	0.00002
NM_000518.5(HBB):c.*111A>G	rs63751128	0.00001
NM_000518.5(HBB):c.-122T>A	rs1272414751	0.00001
NC_000011.10:g.5227113G>C	rs397515291
NC_000011.10:g.5227157G>C	rs33994806
NM_000518.4(HBB):c.269G>A (p.Ser90Asn)	rs33917628
NM_000518.4(HBB):c.92G>C (p.Arg31Thr)	rs33960103
NM_000518.5(HBB):c.-81A>G	rs33981098
NM_000518.5(HBB):c.33C>A (p.Ala11=)	rs35799536
NM_000518.5(HBB):c.380T>A (p.Val127Glu)	rs33925391
NM_000518.5(HBB):c.4G>A (p.Val2Met)	rs33958358
NM_000518.5(HBB):c.90C>T (p.Gly30=)	rs35578002
NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr)	rs1057518042

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