List of variants in gene SMARCB1 reported as pathogenic for embryonal neoplasm

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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: 13

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HGVS	dbSNP	gnomAD frequency
NC_000022.11:g.(?_23787164)_(23834186_?)del
NC_000022.11:g.(?_23793553)_(23793694_?)del
NM_003073.5(SMARCB1):c.1062_1063del (p.Glu354fs)	rs2030790572
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)	rs875989800
NM_003073.5(SMARCB1):c.1148del (p.Pro383fs)	rs2146045204
NM_003073.5(SMARCB1):c.184A>T (p.Lys62Ter)	rs1555875917
NM_003073.5(SMARCB1):c.40_46dup (p.Lys16fs)
NM_003073.5(SMARCB1):c.472C>T (p.Arg158Ter)	rs2145978723
NM_003073.5(SMARCB1):c.575_584dup (p.Asp196fs)
NM_003073.5(SMARCB1):c.591del (p.Gln198fs)	rs587776678
NM_003073.5(SMARCB1):c.629-361_795+2103dup
NM_003073.5(SMARCB1):c.812del (p.Gly271fs)	rs1601433318
NM_003073.5(SMARCB1):c.986+1G>A	rs112038099

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