ClinVar Miner

Variants in gene RBM20 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 66
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HGVS dbSNP gnomAD frequency
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02441
NM_001134363.3(RBM20):c.1801-11G>C rs12572941 0.02426
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268 0.02395
NM_001134363.3(RBM20):c.1914G>A (p.Pro638=) rs74339620 0.01800
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380 0.01586
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
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.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
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.150A>T (p.Pro50=) rs376936285 0.00244
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001134363.3(RBM20):c.1528-16T>C rs191166138 0.00134
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.3170G>A (p.Arg1057Gln) rs188054898 0.00107
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) rs76048624 0.00102
NM_001134363.3(RBM20):c.280C>T (p.Leu94=) rs182768779 0.00102
NM_001134363.3(RBM20):c.153G>T (p.Pro51=) rs760605118 0.00083
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) rs200588338 0.00078
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.1659G>A (p.Ser553=) rs375626512 0.00046
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=) rs554167951 0.00031
NM_001134363.3(RBM20):c.1378T>C (p.Leu460=) rs374014662 0.00028
NM_001134363.3(RBM20):c.3513G>A (p.Thr1171=) rs184312864 0.00015
NM_001134363.3(RBM20):c.3573+16C>T rs772863559 0.00014
NM_001134363.3(RBM20):c.1275+8G>T rs727505318 0.00011
NM_001134363.3(RBM20):c.2862C>T (p.Asp954=) rs751775695 0.00009
NM_001134363.3(RBM20):c.3451+14A>G rs774391134 0.00009
NM_001134363.3(RBM20):c.3504G>A (p.Leu1168=) rs377742289 0.00009
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999 0.00008
NM_001134363.3(RBM20):c.1053C>T (p.Asp351=) rs192232825 0.00007
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=) rs727503388 0.00007
NM_001134363.3(RBM20):c.1161G>A (p.Ala387=) rs374299043 0.00006
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_001134363.3(RBM20):c.774G>A (p.Ser258=) rs569846404 0.00006
NM_001134363.3(RBM20):c.2634G>A (p.Pro878=) rs755917660 0.00004
NM_001134363.3(RBM20):c.441C>T (p.His147=) rs397516619 0.00004
NM_001134363.3(RBM20):c.1308C>T (p.His436=) rs189600634 0.00003
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile) rs183007628 0.00003
NM_001134363.3(RBM20):c.2358C>T (p.Asp786=) rs1045844360 0.00003
NM_001134363.3(RBM20):c.1617G>T (p.Gly539=) rs761674598 0.00002
NM_001134363.3(RBM20):c.2709T>A (p.Thr903=) rs1481403925 0.00002
NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln) rs563500712 0.00001
NM_001134363.3(RBM20):c.1482C>T (p.Phe494=) rs1844400442 0.00001
NM_001134363.3(RBM20):c.2337C>T (p.Pro779=) rs1179283749 0.00001
NM_001134363.3(RBM20):c.2424G>T (p.Gly808=) rs1221011995 0.00001
NM_001134363.3(RBM20):c.2904C>T (p.Ala968=) rs587781138 0.00001
NM_001134363.3(RBM20):c.3315G>A (p.Pro1105=) rs772179438 0.00001
NM_001134363.3(RBM20):c.3330C>T (p.Tyr1110=) rs991930637 0.00001
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.1430-20_1430-19del rs749067157
NM_001134363.3(RBM20):c.146_147del (p.Gln49fs) rs2134793110
NM_001134363.3(RBM20):c.186C>A (p.Ile62=) rs2134793364
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.2196C>T (p.Pro732=) rs1554842740
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu) rs397516601
NM_001134363.3(RBM20):c.2303C>T (p.Ser768Leu) rs1417635
NM_001134363.3(RBM20):c.3317-20C>T rs202039414
NM_001134363.3(RBM20):c.785C>G (p.Thr262Ser) rs758718732

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