ClinVar Miner

List of variants reported as likely pathogenic for SMARCB1-related schwannomatosis

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000268.4(NF2):c.1192_1193del (p.Leu398fs)
NM_000268.4(NF2):c.1340+1G>C
NM_003073.5(SMARCB1):c.10del (p.Met4fs)
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)	rs1601405064

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