ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_003073.5(SMARCB1):c.500+65G>A rs34545858 0.00586
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=) rs35105793 0.00500
NM_003073.5(SMARCB1):c.-115C>T rs551328283 0.00242
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=) rs144863210 0.00182
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=) rs138184483 0.00108
NM_003073.5(SMARCB1):c.267C>T (p.Thr89=) rs141275968 0.00074
NM_003073.5(SMARCB1):c.987C>T (p.Ser329=) rs137942040 0.00041
NM_003073.5(SMARCB1):c.696G>A (p.Thr232=) rs145934279 0.00029
NM_003073.5(SMARCB1):c.1116G>A (p.Thr372=) rs117084604 0.00010
NM_003073.5(SMARCB1):c.987-5C>T rs781136700 0.00006
NM_003073.5(SMARCB1):c.1098C>T (p.Arg366=) rs562018506 0.00002

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