ClinVar Miner

List of variants in gene MYSM1 reported as likely pathogenic for Bone marrow failure syndrome 4

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001085487.3(MYSM1):c.219-1G>A	rs201886018	0.00016
NM_001085487.3(MYSM1):c.1146_1149del (p.Asp382fs)	rs2524280386

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