List of variants reported as uncertain significance for anemia by Genetics and Molecular Pathology, SA Pathology

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)	rs139382267	0.00083
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)	rs139901585	0.00022
NM_000518.5(HBB):c.-31C>T	rs63750628	0.00003
NM_032444.4(SLX4):c.4739+7G>A	rs748897456	0.00002
NM_024675.4(PALB2):c.3350+11A>G	rs515726114	0.00001
NM_000032.5(ALAS2):c.-15-1829T>C
NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro)	rs55877890
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn)	rs104894808
NM_004629.2(FANCG):c.1003G>A (p.Ala335Thr)
NM_006947.4(SRP72):c.-10C>T
NM_033022.4(RPS24):c.3G>A (p.Met1Ile)	rs2131972918
NM_138477.4(CDAN1):c.557C>G (p.Pro186Arg)

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