List of variants reported as likely pathogenic for bone marrow failure syndrome

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_020207.7(ERCC6L2):c.19C>T (p.Gln7Ter)	rs778926161	0.00031
NM_001085487.3(MYSM1):c.219-1G>A	rs201886018	0.00016
NM_001012339.3(DNAJC21):c.983+1G>A	rs368148362	0.00002
NM_000546.6(TP53):c.1140del (p.His380fs)	rs1555524108
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)	rs28934573
NM_001012339.3(DNAJC21):c.1004C>A (p.Ser335Ter)
NM_001012339.3(DNAJC21):c.316-2A>C
NM_001085487.3(MYSM1):c.1146_1149del (p.Asp382fs)
NM_020207.7(ERCC6L2):c.1682_1683del (p.Glu561fs)	rs2132792543
NM_020207.7(ERCC6L2):c.1948-1G>A
NM_020207.7(ERCC6L2):c.3276dup (p.Cys1093fs)
NM_020207.7(ERCC6L2):c.3492+2T>G	rs1588013817

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