ClinVar Miner

List of variants in gene SMARCB1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=) rs2229354 0.10948
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=) rs35105793 0.00536
NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn) rs769322487 0.00001
NM_003073.5(SMARCB1):c.1127G>C (p.Arg376Thr)
NM_003073.5(SMARCB1):c.433G>A (p.Val145Met) rs1601401880
NM_003073.5(SMARCB1):c.538G>T (p.Ala180Ser)
NM_003073.5(SMARCB1):c.669T>C (p.Cys223=) rs2146009569
NM_003073.5(SMARCB1):c.796-1G>A rs2146026614
NM_003073.5(SMARCB1):c.986+2T>C rs2030331202

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