List of variants reported as pathogenic for SMARCB1-related schwannomatosis

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 22q11.22-11.23(chr22:22893189-24177119)
NC_000022.11:g.(29668447_29671826)_(29681601_?)del
NM_000268.4(NF2):c.125_126insG (p.Gly43fs)	rs587776564
NM_000268.4(NF2):c.205_211del (p.Lys69fs)	rs587776565
NM_000268.4(NF2):c.363+1G>A	rs1601583839
NM_000268.4(NF2):c.448-1G>A	rs2146966216
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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