List of variants reported as not provided for familial hemolytic anemia

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Total variants: 43

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HGVS	dbSNP	gnomAD frequency
NM_000375.3(UROS):c.-219C>A	rs4385801	0.41780
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_000324.3(RHAG):c.808G>A (p.Val270Ile)	rs16879498	0.04007
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)	rs147390654	0.00294
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)	rs138824667	0.00256
NM_000375.3(UROS):c.217T>C (p.Cys73Arg)	rs121908012	0.00022
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys)	rs515726212	0.00009
NM_000375.3(UROS):c.673G>A (p.Gly225Ser)	rs121908020	0.00006
NM_001376013.1(EPB41):c.2047G>C (p.Ala683Pro)	rs199764020	0.00005
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu)	rs80338699	0.00005
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)	rs755992543	0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)	rs199422220	0.00004
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr)	rs104894487	0.00001
NM_000375.3(UROS):c.-203T>C	rs1554891988	0.00001
NM_000375.3(UROS):c.244G>T (p.Val82Phe)	rs121908016	0.00001
NM_001114134.2(EPB42):c.830C>T (p.Thr277Ile)	rs515726211	0.00001
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)	rs104894809	0.00001
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln)	rs121917734
NM_000375.3(UROS):c.-26-197C>A	rs397515351
NM_000375.3(UROS):c.139T>C (p.Ser47Pro)	rs397515527
NM_000375.3(UROS):c.197C>T (p.Ala66Val)	rs28941774
NM_000375.3(UROS):c.311C>T (p.Ala104Val)	rs397515528
NM_001114134.2(EPB42):c.433G>T (p.Asp145Tyr)	rs143682977
NM_001114134.2(EPB42):c.860del (p.Arg287fs)	rs515726213
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys)	rs587777101
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln)	rs587777100
NM_001355436.2(SPTB):c.4520G>T (p.Gly1507Val)	rs2139530241
NM_001386140.1(MTTP):c.1304T>A (p.Leu435His)	rs1560621495
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile)	rs199422222
NM_001386140.1(MTTP):c.2237G>A (p.Gly746Glu)	rs767833468
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr)	rs199422221
NM_002049.4(GATA1):c.1240T>C (p.Ter414Arg)	rs587776456
NM_002049.4(GATA1):c.220+1del	rs587776453
NM_002049.4(GATA1):c.220G>C (p.Val74Leu)	rs587776452
NM_002049.4(GATA1):c.2T>C (p.Met1Thr)	rs587776451
NM_002049.4(GATA1):c.613G>A (p.Val205Met)	rs104894815
NM_002049.4(GATA1):c.622G>C (p.Gly208Arg)	rs587776454
NM_002049.4(GATA1):c.622_623delinsTC (p.Gly208Ser)	rs137852312
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp)	rs387907207
NM_002049.4(GATA1):c.652G>T (p.Asp218Tyr)	rs104894808
NM_002049.4(GATA1):c.653A>G (p.Asp218Gly)	rs104894816
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp)	rs80338697

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