ClinVar Miner

List of variants in gene RBM20 reported as likely benign by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser) rs397516621 0.00051
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=) rs375626512 0.00046
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu) rs371951525 0.00036
NM_001134363.3(RBM20):c.1378T>C (p.Leu460=) rs374014662 0.00028
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met) rs727505067 0.00018
NM_001134363.3(RBM20):c.3177A>G (p.Pro1059=) rs562290651 0.00012
NM_001134363.3(RBM20):c.1275+8G>T rs727505318 0.00011
NM_001134363.3(RBM20):c.2953C>T (p.Pro985Ser) rs555981231 0.00010
NM_001134363.3(RBM20):c.1161G>A (p.Ala387=) rs374299043 0.00006
NM_001134363.3(RBM20):c.348C>T (p.Ala116=) rs569709951 0.00006
NM_001134363.3(RBM20):c.3574-7T>G rs397516616 0.00006
NM_001134363.3(RBM20):c.1620G>A (p.Leu540=) rs1015562037 0.00005
NM_001134363.3(RBM20):c.1458C>T (p.Tyr486=) rs397516594 0.00004
NM_001134363.3(RBM20):c.1815C>T (p.Ala605=) rs577194741 0.00003
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile) rs369747752 0.00003
NM_001134363.3(RBM20):c.1221C>A (p.Pro407=) rs1243243290 0.00001
NM_001134363.3(RBM20):c.135G>C (p.Pro45=) rs1564804199 0.00001
NM_001134363.3(RBM20):c.3366G>A (p.Glu1122=) rs397516613 0.00001
NM_001134363.3(RBM20):c.3660A>G (p.Pro1220=) rs376303757 0.00001
NM_001134363.3(RBM20):c.717A>T (p.Thr239=) rs886046700 0.00001
NM_001134363.3(RBM20):c.1107C>T (p.Asn369=)
NM_001134363.3(RBM20):c.3264C>T (p.Pro1088=) rs1844918076
NM_001134363.3(RBM20):c.3441C>T (p.Ser1147=)
NM_001134363.3(RBM20):c.3453G>A (p.Gly1151=) rs1564667864
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653

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