ClinVar Miner

List of variants in gene RBM20 reported by Blueprint Genetics

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Gene type:
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392 0.00028
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser) rs730880182 0.00016
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu) rs730880184 0.00014
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602 0.00012
NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser) rs374611807 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_001134363.3(RBM20):c.3574-6C>G rs762069628 0.00004
NM_001134363.3(RBM20):c.2173G>A (p.Glu725Lys) rs190416018 0.00003
NM_001134363.3(RBM20):c.1019C>T (p.Pro340Leu) rs730880181 0.00002
NM_001134363.3(RBM20):c.1281G>A (p.Trp427Ter) rs869025504 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001134363.3(RBM20):c.2089G>A (p.Gly697Arg) rs376463335 0.00001
NM_001134363.3(RBM20):c.3067G>T (p.Asp1023Tyr) rs730880186 0.00001
NM_001134363.3(RBM20):c.1606A>G (p.Ile536Val) rs869025505
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.19A>T (p.Met7Leu) rs1590590851
NM_001134363.3(RBM20):c.2219C>T (p.Ser740Phe) rs730880183
NM_001134363.3(RBM20):c.2338G>C (p.Gly780Arg) rs750988872
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del) rs397516603
NM_001134363.3(RBM20):c.3496T>C (p.Cys1166Arg) rs869025506
NM_001134363.3(RBM20):c.3632C>T (p.Pro1211Leu) rs587782973
NM_001134363.3(RBM20):c.364C>G (p.Gln122Glu) rs727504583
NM_001134363.3(RBM20):c.611C>T (p.Pro204Leu) rs869025503

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