List of variants reported as pathogenic for anemia by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_000518.5(HBB):c.20A>T (p.Glu7Val)	rs334	0.01298
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_000402.4(G6PD):c.934G>C (p.Asp312His)	rs137852318	0.00072
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_006363.6(SEC23B):c.325G>A (p.Glu109Lys)	rs121918221	0.00024
NM_000375.3(UROS):c.217T>C (p.Cys73Arg)	rs121908012	0.00022
NM_006363.6(SEC23B):c.40C>T (p.Arg14Trp)	rs121918222	0.00017
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)	rs398123546	0.00014
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)	rs72554664	0.00012
NM_000402.4(G6PD):c.961G>A (p.Val321Met)	rs137852327	0.00010
NM_000402.4(G6PD):c.185A>G (p.His62Arg)	rs137852340	0.00008
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)	rs137852330	0.00003
NM_000135.4(FANCA):c.2778+1G>A	rs140180549	0.00002
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)	rs144484373	0.00002
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)	rs397507552
NM_000136.3(FANCC):c.67del (p.Asp23fs)	rs104886459
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)	rs769664228
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)	rs137852314
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter)
NM_007294.4(BRCA1):c.2866_2870del (p.Ser956fs)	rs80357819

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