ClinVar Miner

Variants in gene RBM20 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 35
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_001134363.3(RBM20):c.1275+13A>G rs373230569 0.00392
NM_001134363.3(RBM20):c.3452-10C>T rs60618533 0.00369
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) rs181769913 0.00324
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) rs76048624 0.00102
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) rs199868951 0.00055
NM_001134363.3(RBM20):c.3633G>A (p.Pro1211=) rs781373863 0.00019
NM_001134363.3(RBM20):c.761C>T (p.Ser254Leu) rs766868824 0.00016
NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln) rs143785916 0.00011
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile) rs183770014 0.00011
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys) rs777768807 0.00009
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999 0.00008
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr) rs876657971 0.00007
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe) rs371828469 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_001134363.3(RBM20):c.3217G>A (p.Glu1073Lys) rs770328474 0.00005
NM_001134363.3(RBM20):c.1338-11G>A rs372064165 0.00004
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu) rs191342808 0.00004
NM_001134363.3(RBM20):c.42C>G (p.Ser14Arg) rs541043583 0.00004
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys) rs565524160 0.00003
NM_001134363.3(RBM20):c.487C>T (p.Arg163Trp) rs1458326422 0.00002
NM_001134363.3(RBM20):c.2100G>C (p.Lys700Asn) rs957430941 0.00001
NM_001134363.3(RBM20):c.2149C>A (p.Gln717Lys) rs551819918 0.00001
NM_001134363.3(RBM20):c.788A>G (p.Tyr263Cys) rs886046701 0.00001
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.3169C>G (p.Arg1057Gly) rs199830512
NM_001134363.3(RBM20):c.3262C>A (p.Pro1088Thr) rs969716149

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