ClinVar Miner

List of variants in gene SMARCB1 reported by OMIM

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.1130G>A (p.Arg377His) rs387906812 0.00001
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.143C>T (p.Pro48Leu) rs387906811
NM_003073.5(SMARCB1):c.203_216delinsTACC (p.His68fs) rs587776679
NM_003073.5(SMARCB1):c.233-2_237del
NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter) rs74315513
NM_003073.5(SMARCB1):c.544C>T (p.Gln182Ter) rs121434496
NM_003073.5(SMARCB1):c.591del (p.Gln198fs) rs587776678
NM_003073.5(SMARCB1):c.629-361_795+2103dup
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val) rs267607072
NM_003073.5(SMARCB1):c.951del (p.Gln318fs) rs587776677
NM_003073.5(SMARCB1):c.986+1G>A rs112038099
SMARCB1, 19-BP DEL

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