List of variants reported as likely benign for congenital dyserythropoietic anemia by Illumina Laboratory Services, Illumina

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		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_138477.4(CDAN1):c.463_465del	rs111961345	0.05900
NM_006363.6(SEC23B):c.1276G>A (p.Val426Ile)	rs41309927	0.04225
NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp)	rs114779238	0.01260
NM_006363.5(SEC23B):c.-57G>C	rs113396443	0.01206
NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln)	rs61746356	0.00932
NM_138477.4(CDAN1):c.1368-15G>A	rs74586882	0.00523
NM_138477.4(CDAN1):c.237G>C (p.Ser79=)	rs180857061	0.00344
NM_006363.6(SEC23B):c.835-7A>G	rs184484121	0.00317
NM_138477.4(CDAN1):c.2263-5G>A	rs190802841	0.00311
NM_138477.4(CDAN1):c.1967C>G (p.Thr656Ser)	rs139202766	0.00296
NM_138477.4(CDAN1):c.2067G>A (p.Ala689=)	rs147161012	0.00288
NM_138477.4(CDAN1):c.1524A>G (p.Gln508=)	rs147500837	0.00283
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=)	rs138198461	0.00271
NM_006363.6(SEC23B):c.689+10C>T	rs200020725	0.00220
NM_138477.4(CDAN1):c.2463G>A (p.Gly821=)	rs139809959	0.00204
NM_138477.4(CDAN1):c.386G>A (p.Arg129His)	rs12441516	0.00155
NM_138477.4(CDAN1):c.2360C>T (p.Ala787Val)	rs138839403	0.00035
NM_138477.4(CDAN1):c.2059C>T (p.Arg687Cys)	rs181448047	0.00024
NM_138477.4(CDAN1):c.2869-5C>T	rs370304543	0.00024
NM_138477.4(CDAN1):c.188G>A (p.Arg63His)	rs772157159	0.00023
NM_006563.5(KLF1):c.-43G>A	rs372359976	0.00021
NM_006563.5(KLF1):c.259C>G (p.Pro87Ala)	rs752204035	0.00016
NM_138477.4(CDAN1):c.1066G>A (p.Glu356Lys)	rs185031946	0.00011
NM_006363.6(SEC23B):c.*278T>C	rs564007974	0.00004
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg)	rs534770840	0.00001
NM_006363.6(SEC23B):c.9_10del	rs142180765
NM_138477.4(CDAN1):c.773+14G>A	rs543228844

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