List of variants in gene SMARCB1 reported as pathogenic for SMARCB1-related schwannomatosis

Minimum submission review status:		Collection method:
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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_003073.5(SMARCB1):c.1118+2T>C
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.307_346del (p.Asn103fs)	rs2145964108
NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter)	rs74315513
NM_003073.5(SMARCB1):c.629-361_795+2103dup
NM_003073.5(SMARCB1):c.747dup (p.Thr250fs)	rs2146010204
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val)	rs267607072

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