List of variants studied for anemia by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000037.4(ANK1):c.5096+16T>C	rs508112	0.97818
NM_000037.4(ANK1):c.5479-3T>C	rs515071	0.75703
NM_000037.4(ANK1):c.315C>T (p.Asn105=)	rs2304871	0.23757
NM_000037.4(ANK1):c.5265G>A (p.Val1755=)	rs750625	0.21708
NM_000037.4(ANK1):c.2349C>T (p.Thr783=)	rs2304880	0.21375
NM_001386140.1(MTTP):c.1769+14C>T	rs41275713	0.03960
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu)	rs17599091	0.03958
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser)	rs113337987	0.02355
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)	rs61750974	0.00763
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser)	rs11557600	0.00162
NM_080669.6(SLC46A1):c.294C>A (p.Leu98=)	rs371270310	0.00110
NM_000037.4(ANK1):c.2913G>C (p.Leu971=)	rs504574
NM_182922.4(HEATR3):c.1751G>A (p.Gly584Glu)	rs917466219

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