List of variants in gene SMARCB1 reported as pathogenic for Hereditary cancer-predisposing syndrome

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_003073.5(SMARCB1):c.*82C>T	rs878854600
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)	rs875989800
NM_003073.5(SMARCB1):c.157C>T (p.Arg53Ter)	rs1928400256
NM_003073.5(SMARCB1):c.178_179del (p.Arg60fs)	rs1555875915
NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter)	rs74315513
NM_003073.5(SMARCB1):c.472C>T (p.Arg158Ter)	rs2145978723

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