ClinVar Miner

List of variants in gene SMARCB1 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NC_000022.10:g.(?_24143121)_(24145619_?)dup
NM_003073.5(SMARCB1):c.*82C>T rs878854600
NM_003073.5(SMARCB1):c.1070C>T (p.Thr357Ile) rs1555881567
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu) rs797045989
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) rs1568963037
NM_003073.5(SMARCB1):c.1096C>T (p.Arg366Cys) rs886039520
NM_003073.5(SMARCB1):c.1133T>C (p.Leu378Pro) rs1410970733
NM_003073.5(SMARCB1):c.1142C>G (p.Thr381Arg) rs1387467529
NM_003073.5(SMARCB1):c.232+1G>A rs1928405533
NM_003073.5(SMARCB1):c.233-2A>G rs1568937087
NM_003073.5(SMARCB1):c.363-2A>G
NM_003073.5(SMARCB1):c.363-2del rs2145977986
NM_003073.5(SMARCB1):c.628+2T>C
NM_003073.5(SMARCB1):c.795+1G>A rs1930230378
NM_003073.5(SMARCB1):c.80T>G (p.Met27Arg) rs763994045
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val) rs267607072
NM_003073.5(SMARCB1):c.93+1G>A
NM_003073.5(SMARCB1):c.986+1G>T rs112038099
NM_003073.5(SMARCB1):c.986+2T>C rs2030331202
NM_003073.5(SMARCB1):c.987-1G>A rs2030785010
NM_003073.5(SMARCB1):c.987-1G>C rs2030785010

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