List of variants studied for familial hemolytic anemia by Genetics and Molecular Pathology, SA Pathology

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)	rs120074167	0.00013
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp)	rs121964845	0.00012
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)	rs80338694	0.00009
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_000402.4(G6PD):c.1179C>A (p.Asn393Lys)	rs137852329
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	rs137852314
NM_001142864.4(PIEZO1):c.2330-9_2330-2dup
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn)	rs104894808
NM_006563.5(KLF1):c.649C>T (p.Gln217Ter)	rs2145927881
NM_138477.4(CDAN1):c.557C>G (p.Pro186Arg)

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