ClinVar Miner

List of variants reported as uncertain significance for Rhabdoid tumor predisposition syndrome 1 by Baylor Genetics

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.169G>A (p.Val57Met) rs922052006 0.00004
NM_003073.5(SMARCB1):c.749C>T (p.Thr250Met) rs751957685 0.00003
NM_003073.5(SMARCB1):c.1142C>T (p.Thr381Met) rs1387467529 0.00002
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) rs762962010 0.00002
NM_003073.5(SMARCB1):c.628+4C>T rs373375336 0.00001
NM_003073.5(SMARCB1):c.695C>T (p.Thr232Met) rs776693680 0.00001
NM_003073.5(SMARCB1):c.700G>T (p.Val234Leu) rs1272912695 0.00001
NM_003073.5(SMARCB1):c.781C>T (p.Arg261Cys) rs1368176286 0.00001
NM_003073.5(SMARCB1):c.795+5G>A rs199902957 0.00001
NM_003073.5(SMARCB1):c.947G>A (p.Arg316Gln) rs2030327999 0.00001
NM_003073.5(SMARCB1):c.1037C>T (p.Ala346Val) rs1231539032
NM_003073.5(SMARCB1):c.1ATG[3] (p.Met4del) rs769579890
NM_003073.5(SMARCB1):c.232+59A>G rs2517661144
NM_003073.5(SMARCB1):c.232+5G>A rs1555875932
NM_003073.5(SMARCB1):c.26C>G (p.Thr9Ser) rs2517652557
NM_003073.5(SMARCB1):c.329T>C (p.Val110Ala) rs1601391157
NM_003073.5(SMARCB1):c.529C>T (p.His177Tyr) rs2517684125
NM_003073.5(SMARCB1):c.632A>G (p.Lys211Arg) rs2146009247
NM_003073.5(SMARCB1):c.641C>G (p.Thr214Arg) rs780906523
NM_003073.5(SMARCB1):c.673G>T (p.Asp225Tyr) rs768379745
NM_003073.5(SMARCB1):c.719C>G (p.Ala240Gly) rs2146010001
NM_003073.5(SMARCB1):c.79A>C (p.Met27Leu) rs762676176
NM_003073.5(SMARCB1):c.79A>G (p.Met27Val) rs762676176
NM_003073.5(SMARCB1):c.93+374A>G rs2517654407
NM_003073.5(SMARCB1):c.967C>A (p.Gln323Lys) rs1265308124

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