ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_003073.5(SMARCB1):c.696G>A (p.Thr232=) rs145934279 0.00029
NM_003073.5(SMARCB1):c.*15C>A rs369400289 0.00028
NM_003073.5(SMARCB1):c.*17C>T rs372348692 0.00009
NM_003079.5(SMARCE1):c.1089T>C (p.Thr363=) rs767262463 0.00004
NM_003079.5(SMARCE1):c.762G>A (p.Glu254=) rs374977780 0.00003
NM_003073.5(SMARCB1):c.795+9C>T rs1007579645
NM_003079.5(SMARCE1):c.525T>C (p.Pro175=) rs773720929

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