ClinVar Miner

Variants in gene SMARCB1 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=) rs138184483 0.00108
NM_003073.5(SMARCB1):c.500+24C>G rs199737164 0.00084
NM_003073.5(SMARCB1):c.*17C>T rs372348692 0.00009
NM_003073.5(SMARCB1):c.585C>T (p.Ile195=) rs757546528 0.00007
NM_003073.5(SMARCB1):c.987-4G>A rs745773662 0.00006
NM_003073.5(SMARCB1):c.749C>T (p.Thr250Met) rs751957685 0.00003
NM_003073.5(SMARCB1):c.750G>A (p.Thr250=) rs1049144154 0.00003
NM_003073.5(SMARCB1):c.117C>T (p.Phe39=) rs757517233 0.00001
NM_003073.5(SMARCB1):c.362+8G>A rs727504162 0.00001
NM_003073.5(SMARCB1):c.363-18T>A rs1929103875 0.00001
NM_003073.5(SMARCB1):c.87C>T (p.Gly29=) rs1601382677 0.00001
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.90C>T (p.Ser30=) rs761868468
NM_003073.5(SMARCB1):c.987-4G>C rs745773662

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