List of variants reported as likely pathogenic for anemia by Genetics and Molecular Pathology, SA Pathology

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	rs140522266	0.00034
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)	rs80338694	0.00009
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys)	rs543277216	0.00001
NM_000298.6(PKLR):c.1022G>C (p.Gly341Ala)
NM_000298.6(PKLR):c.823G>C (p.Gly275Arg)
NM_000365.6(TPI1):c.544-1G>C	rs2138094606
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys)	rs137852329
NM_000518.5(HBB):c.233_234del (p.His78fs)	rs2133588176
NM_000518.5(HBB):c.279C>G (p.His93Gln)
NM_000518.5(HBB):c.316-14T>G	rs35703285
NM_000969.5(RPL5):c.3+1G>A
NM_006563.5(KLF1):c.649C>T (p.Gln217Ter)	rs2145927881

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