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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001085487.3(MYSM1):c.1168G>T (p.Glu390Ter)	rs1557518298
NM_001085487.3(MYSM1):c.1467C>G (p.Tyr489Ter)	rs1361904700
NM_001085487.3(MYSM1):c.1516C>T (p.Arg506Ter)	rs780757165
NM_001085487.3(MYSM1):c.1885C>T (p.Gln629Ter)	rs1644486654
NM_001085487.3(MYSM1):c.1967A>G (p.His656Arg)	rs1557507208
NM_001085487.3(MYSM1):c.399G>A (p.Leu133=)	rs1644867065
NM_001085487.3(MYSM1):c.412C>T (p.Arg138Ter)	rs866468317
NM_001085487.3(MYSM1):c.869C>G (p.Ser290Ter)	rs1569770360

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