ClinVar Miner

List of variants studied for SMARCB1-related schwannomatosis; Rhabdoid tumor predisposition syndrome 1; Intellectual disability, autosomal dominant 15 by Fulgent Genetics, Fulgent Genetics

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) rs762962010 0.00002
NM_003073.5(SMARCB1):c.1115C>T (p.Thr372Met) rs992198711 0.00001
NM_003073.5(SMARCB1):c.11T>C (p.Met4Thr) rs371477865 0.00001
NM_003073.5(SMARCB1):c.790A>G (p.Ile264Val) rs887245809 0.00001
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003073.5(SMARCB1):c.510C>A (p.Asp170Glu)
NM_003073.5(SMARCB1):c.597G>C (p.Lys199Asn)

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