List of variants reported as benign for bone marrow failure syndrome by Illumina Laboratory Services, Illumina

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_006947.4(SRP72):c.*780C>T	rs10518	0.35479
NM_006947.4(SRP72):c.*173T>C	rs10051	0.19449
NM_006947.4(SRP72):c.*732A>G	rs14211	0.19317
NM_006947.4(SRP72):c.*1603A>G	rs1142851	0.13141
NM_006947.4(SRP72):c.*442A>G	rs7762	0.08062
NM_006947.4(SRP72):c.1671A>G (p.Lys557=)	rs34419325	0.08059
NM_006947.4(SRP72):c.*386G>A	rs4260596	0.07511
NM_006947.4(SRP72):c.*1313C>G	rs113719942	0.06349
NM_006947.4(SRP72):c.1410A>G (p.Leu470=)	rs17086879	0.02284
NM_006947.4(SRP72):c.*139G>A	rs28438730	0.02206
NM_006947.4(SRP72):c.*972G>A	rs189886380	0.00692
NM_006947.4(SRP72):c.1380T>C (p.Tyr460=)	rs73818109	0.00682
NM_006947.4(SRP72):c.686A>G (p.His229Arg)	rs138986942	0.00369
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp)	rs111673705	0.00260
NM_006947.4(SRP72):c.*24G>A	rs144710632	0.00215
NM_006947.4(SRP72):c.1803G>A (p.Gly601=)	rs143643243	0.00131
NM_006947.4(SRP72):c.2004A>G (p.Lys668=)	rs148068843	0.00108
NM_006947.4(SRP72):c.1704A>G (p.Pro568=)	rs41280351	0.00053
NM_006947.4(SRP72):c.144G>T (p.Leu48=)	rs112496764	0.00048
NM_006947.4(SRP72):c.1589T>C (p.Ile530Thr)	rs192401229	0.00048
NM_006947.4(SRP72):c.789A>G (p.Leu263=)	rs77935196	0.00035
NM_006947.4(SRP72):c.406G>A (p.Val136Ile)	rs145817936	0.00028
NM_006947.4(SRP72):c.294G>A (p.Leu98=)	rs145137299	0.00020
NM_006947.4(SRP72):c.*558T>C	rs568178342	0.00018
NM_006947.4(SRP72):c.110-5T>G	rs186908289	0.00010
NM_006947.4(SRP72):c.133G>A (p.Val45Ile)	rs201940585	0.00006
NM_006947.4(SRP72):c.622_649del	rs59791697
NM_006947.4(SRP72):c.1650T>C (p.Asp550=)	rs202073540
NM_006947.4(SRP72):c.19G>T (p.Gly7Trp)	rs17524437
NM_006947.4(SRP72):c.20G>A (p.Gly7Glu)	rs139502866
NM_006947.4(SRP72):c.20G>C (p.Gly7Ala)	rs139502866
NM_006947.4(SRP72):c.21G>T (p.Gly7=)	rs12513091
NM_006947.4(SRP72):c.23G>A (p.Gly8Glu)	rs760960779
NM_006947.4(SRP72):c.37G>T (p.Ala13Ser)	rs781230154

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