ClinVar Miner

List of variants in gene SMARCB1 reported as pathogenic by Invitae

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.1130G>A (p.Arg377His) rs387906812 0.00001
NC_000022.10:g.(?_24135736)_(24135885_?)del
NC_000022.10:g.(?_24143121)_(24145619_?)del
NC_000022.10:g.(?_24158947)_(24176449_?)del
NC_000022.11:g.(?_23787160)_(23787272_?)del
NC_000022.11:g.(?_23787160)_(23834190_?)del
NC_000022.11:g.(?_23787164)_(23834186_?)del
NC_000022.11:g.(?_23787170)_(23834262_?)del
NC_000022.11:g.(?_23793553)_(23793694_?)del
NC_000022.11:g.(?_23816760)_(23816946_?)dup
NC_000022.11:g.(?_23825215)_(23825425_?)del
NM_003073.5(SMARCB1):c.*82C>T rs878854600
NM_003073.5(SMARCB1):c.104_115del (p.Tyr35_Met38del) rs1928395725
NM_003073.5(SMARCB1):c.1052dup (p.Leu352fs) rs2030789446
NM_003073.5(SMARCB1):c.1066_1067del (p.Leu356fs) rs1555881563
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003073.5(SMARCB1):c.1118+1G>A rs1555881586
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
NM_003073.5(SMARCB1):c.1148del (p.Pro383fs) rs2146045204
NM_003073.5(SMARCB1):c.118C>T (p.Arg40Ter) rs1060503015
NM_003073.5(SMARCB1):c.137_140dup (p.Tyr47Ter) rs1555875892
NM_003073.5(SMARCB1):c.141C>A (p.Tyr47Ter) rs1601388576
NM_003073.5(SMARCB1):c.147dup (p.Leu50fs)
NM_003073.5(SMARCB1):c.152G>A (p.Trp51Ter) rs1060503016
NM_003073.5(SMARCB1):c.153G>A (p.Trp51Ter) rs2145960213
NM_003073.5(SMARCB1):c.157C>T (p.Arg53Ter) rs1928400256
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu) rs779769475
NM_003073.5(SMARCB1):c.159_160delinsTATCTGGAGGCG (p.Leu54fs) rs1928400754
NM_003073.5(SMARCB1):c.184A>T (p.Lys62Ter) rs1555875917
NM_003073.5(SMARCB1):c.214del (p.Thr72fs)
NM_003073.5(SMARCB1):c.214dup (p.Thr72fs)
NM_003073.5(SMARCB1):c.268del (p.Leu90fs) rs1928539937
NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter) rs74315513
NM_003073.5(SMARCB1):c.362+1G>A rs1568937197
NM_003073.5(SMARCB1):c.364G>T (p.Glu122Ter) rs1929106223
NM_003073.5(SMARCB1):c.41C>A (p.Pro14His)
NM_003073.5(SMARCB1):c.463del (p.Arg155fs)
NM_003073.5(SMARCB1):c.472C>T (p.Arg158Ter) rs2145978723
NM_003073.5(SMARCB1):c.489del (p.Phe164fs)
NM_003073.5(SMARCB1):c.496del (p.Leu166fs) rs1929117983
NM_003073.5(SMARCB1):c.501-1G>C rs1555877276
NM_003073.5(SMARCB1):c.536_542del (p.Asn179fs)
NM_003073.5(SMARCB1):c.601C>T (p.Arg201Ter) rs1555877286
NM_003073.5(SMARCB1):c.644del (p.Pro215fs) rs1930219613
NM_003073.5(SMARCB1):c.778C>T (p.Gln260Ter) rs2146010499
NM_003073.5(SMARCB1):c.91G>T (p.Glu31Ter) rs2145952184
NM_003073.5(SMARCB1):c.92_93del (p.Glu31fs) rs2145952190
NM_003073.5(SMARCB1):c.969_976del (p.Lys324fs) rs1060503017

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