List of variants reported as pathogenic for familial hemolytic anemia by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00270
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_000298.6(PKLR):c.1436G>A (p.Arg479His)	rs118204085	0.00004
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)	rs137852339	0.00004
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)	rs5030869	0.00003
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)	rs137852330	0.00003
NM_000037.4(ANK1):c.4306C>T (p.Arg1436Ter)	rs1586072383
NM_000175.5(GPI):c.1414C>T (p.Arg472Cys)	rs1364382189
NM_000298.6(PKLR):c.603G>A (p.Trp201Ter)
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)	rs121912751
NM_000402.4(G6PD):c.1249C>T (p.Arg417Cys)	rs137852334
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)	rs78478128
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	rs137852314
NM_001355436.2(SPTB):c.4735C>T (p.Arg1579Ter)	rs760938057
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys)	rs137852325
NM_003126.4(SPTA1):c.83G>A (p.Arg28His)	rs121918641
NM_006563.5(KLF1):c.973G>A (p.Glu325Lys)	rs267607201
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp)	rs80338697

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