ClinVar Miner

List of variants in gene SMARCB1 reported as uncertain significance by Baylor Genetics

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_003073.5(SMARCB1):c.1142C>T (p.Thr381Met) rs1387467529 0.00002
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) rs762962010 0.00002
NM_003073.5(SMARCB1):c.749C>T (p.Thr250Met) rs751957685 0.00002
NM_003073.5(SMARCB1):c.628+4C>T rs373375336 0.00001
NM_003073.5(SMARCB1):c.695C>T (p.Thr232Met) rs776693680 0.00001
NM_003073.5(SMARCB1):c.781C>T (p.Arg261Cys) rs1368176286 0.00001
NM_003073.5(SMARCB1):c.947G>A (p.Arg316Gln) rs2030327999 0.00001
NM_003073.5(SMARCB1):c.1037C>T (p.Ala346Val) rs1231539032
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) rs1568963037
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1ATG[3] (p.Met4del) rs769579890
NM_003073.5(SMARCB1):c.232+59A>G
NM_003073.5(SMARCB1):c.487A>G (p.Thr163Ala) rs1929117173
NM_003073.5(SMARCB1):c.529C>T (p.His177Tyr)
NM_003073.5(SMARCB1):c.641C>G (p.Thr214Arg) rs780906523
NM_003073.5(SMARCB1):c.719C>G (p.Ala240Gly)
NM_003073.5(SMARCB1):c.795+5G>A rs199902957
NM_003073.5(SMARCB1):c.79A>G (p.Met27Val) rs762676176

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