ClinVar Miner

List of variants studied for Rhabdoid tumor predisposition syndrome 1 by KCCC/NGS Laboratory, Kuwait Cancer Control Center

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Total variants: 9
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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.362+7C>T rs34746244 0.00815
NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter) rs62622817 0.00398
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_003073.5(SMARCB1):c.1131T>C (p.Arg377=) rs144863210 0.00182
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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