ClinVar Miner

List of variants in gene SMARCB1 reported by Sema4, Sema4

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Gene type:
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=) rs144863210 0.00182
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=) rs138184483 0.00115
NM_003073.5(SMARCB1):c.267C>T (p.Thr89=) rs141275968 0.00082
NM_003073.5(SMARCB1):c.987C>T (p.Ser329=) rs137942040 0.00041
NM_003073.5(SMARCB1):c.696G>A (p.Thr232=) rs145934279 0.00029
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val) rs367768260 0.00020
NM_003073.5(SMARCB1):c.796-13G>T rs756643970 0.00008
NM_003073.5(SMARCB1):c.987-13C>T rs185572642 0.00008
NM_003073.5(SMARCB1):c.987-4G>A rs745773662 0.00006
NM_003073.5(SMARCB1):c.987-5C>T rs781136700 0.00006
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=) rs149451748 0.00004
NM_003073.5(SMARCB1):c.750G>A (p.Thr250=) rs1049144154 0.00003
NM_003073.5(SMARCB1):c.1098C>T (p.Arg366=) rs562018506 0.00002
NM_003073.5(SMARCB1):c.237C>T (p.His79=) rs200394488 0.00002
NM_003073.5(SMARCB1):c.749C>T (p.Thr250Met) rs751957685 0.00002
NM_003073.5(SMARCB1):c.117C>T (p.Phe39=) rs757517233 0.00001
NM_003073.5(SMARCB1):c.781C>T (p.Arg261Cys) rs1368176286 0.00001
NM_003073.5(SMARCB1):c.946C>T (p.Arg316Trp) rs769023941 0.00001
NM_003073.5(SMARCB1):c.185A>C (p.Lys62Thr) rs1928402357
NM_003073.5(SMARCB1):c.233-9_233-6del rs1928536961
NM_003073.5(SMARCB1):c.336C>T (p.Ile112=) rs2145964352
NM_003073.5(SMARCB1):c.558G>C (p.Leu186=) rs751914353
NM_003073.5(SMARCB1):c.735C>T (p.Ile245=) rs570024912
NM_003073.5(SMARCB1):c.747C>T (p.Pro249=) rs1555879356
NM_003073.5(SMARCB1):c.804C>A (p.Ile268=) rs1448111718
NM_003073.5(SMARCB1):c.987-4G>C rs745773662

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