ClinVar Miner

List of variants in gene SMARCE1 reported as pathogenic

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NC_000017.10:g.(?_38785037)_(38804103_?)del
NM_003079.5(SMARCE1):c.218A>C (p.Tyr73Ser) rs387906857
NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys) rs387906857
NM_003079.5(SMARCE1):c.237+1G>T rs1426841589
NM_003079.5(SMARCE1):c.248_249del (p.Gln83fs)
NM_003079.5(SMARCE1):c.310T>C (p.Trp104Arg) rs2143997365
NM_003079.5(SMARCE1):c.313C>T (p.Arg105Ter) rs1060501395
NM_003079.5(SMARCE1):c.314G>A (p.Arg105Gln) rs2037146907
NM_003079.5(SMARCE1):c.328G>T (p.Glu110Ter) rs2143997316
NM_003079.5(SMARCE1):c.340G>T (p.Glu114Ter) rs2037146773
NM_003079.5(SMARCE1):c.376T>G (p.Tyr126Asp)
NM_003079.5(SMARCE1):c.411del (p.Ala138fs)
NM_003079.5(SMARCE1):c.417C>G (p.Tyr139Ter) rs1555605752
NM_003079.5(SMARCE1):c.439del (p.Ser147fs)
NM_003079.5(SMARCE1):c.454_455delinsT (p.Ala152fs) rs1555605750
NM_003079.5(SMARCE1):c.472C>T (p.Arg158Ter) rs1251821702
NM_003079.5(SMARCE1):c.493G>T (p.Glu165Ter) rs2143996133
NM_003079.5(SMARCE1):c.506del (p.Pro169fs)
NM_003079.5(SMARCE1):c.525del (p.Ala176fs) rs878854603
NM_003079.5(SMARCE1):c.554del (p.Gly185fs)
NM_003079.5(SMARCE1):c.587del (p.Phe196fs)
NM_003079.5(SMARCE1):c.624_627del (p.Ser208fs) rs797045990
NM_003079.5(SMARCE1):c.673C>T (p.Gln225Ter)
NM_003079.5(SMARCE1):c.688C>T (p.Gln230Ter) rs2143988272
NM_003079.5(SMARCE1):c.694C>T (p.Gln232Ter)
NM_003079.5(SMARCE1):c.715C>T (p.Arg239Ter) rs397509405
NM_003079.5(SMARCE1):c.751C>T (p.Arg251Ter) rs1057518166
NM_003079.5(SMARCE1):c.757C>T (p.Gln253Ter) rs1555605347
NM_003079.5(SMARCE1):c.808del (p.Arg272fs) rs2143986851
NM_003079.5(SMARCE1):c.814del (p.Arg272fs)
NM_003079.5(SMARCE1):c.816+1G>T
NM_003079.5(SMARCE1):c.871C>T (p.Gln291Ter) rs2037087179
NM_003079.5(SMARCE1):c.92del (p.Tyr31fs) rs2144009190

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