ClinVar Miner

List of variants reported as benign for Rhabdoid tumor predisposition syndrome 1

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Total variants: 16
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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.-117C>T rs11090285 0.08005
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.-31C>T rs34276473 0.00535
NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter) rs62622817 0.00398
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.-184G>A rs563943196 0.00165
NM_003073.5(SMARCB1):c.*293C>T rs754865420 0.00051
NM_003073.5(SMARCB1):c.*33T>G rs11541580 0.00034
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val) rs367768260 0.00020
NM_003073.5(SMARCB1):c.-17C>T rs372777519 0.00006
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=) rs149451748 0.00004
NM_003073.5(SMARCB1):c.978C>T (p.Tyr326=) rs187488637 0.00003

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