ClinVar Miner

List of variants in gene SMARCB1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=) rs35105793 0.00536
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.500+24C>G rs199737164 0.00086
NM_003073.5(SMARCB1):c.696G>A (p.Thr232=) rs145934279 0.00029
NM_003073.5(SMARCB1):c.500+111C>A rs35070121 0.00025
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val) rs367768260 0.00020
NM_003073.5(SMARCB1):c.*17C>T rs372348692 0.00009
NM_003073.5(SMARCB1):c.987-5C>T rs781136700 0.00006
NM_003073.5(SMARCB1):c.690G>A (p.Pro230=) rs761800288 0.00002
NM_003073.5(SMARCB1):c.1029G>A (p.Thr343=) rs761056928 0.00001
NM_003073.5(SMARCB1):c.1118+6C>G rs200675113 0.00001
NM_003073.5(SMARCB1):c.372G>A (p.Lys124=) rs1929107625
NM_003073.5(SMARCB1):c.500+40C>T
NM_003073.5(SMARCB1):c.500+58C>T
NM_003073.5(SMARCB1):c.500+894T>A
NM_003073.5(SMARCB1):c.645T>G (p.Pro215=) rs917531532
NM_003073.5(SMARCB1):c.897G>T (p.Ser299=) rs2229354

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