ClinVar Miner

List of variants studied for SMARCB1-related schwannomatosis by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
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_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.629-361_795+2103dup
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val) rs267607072

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