ClinVar Miner

List of variants in gene CBL reported as likely benign for RASopathy

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_005188.3(CBL):c.107_109ACC[6] (p.His42del) rs373212940
NM_005188.3(CBL):c.120C>T (p.His40=) rs745328496
NM_005188.3(CBL):c.1227+4C>T rs201747825
NM_005188.3(CBL):c.1287C>T (p.Ile429=) rs148368481
NM_005188.3(CBL):c.1290G>A (p.Val430=) rs1060503996
NM_005188.3(CBL):c.1296T>C (p.Asp432=) rs1188095865
NM_005188.3(CBL):c.12C>T (p.Asn4=) rs371567712
NM_005188.3(CBL):c.1365_1367TGA[7] (p.Asp460dup) rs397507494
NM_005188.3(CBL):c.1443G>T (p.Pro481=) rs768111719
NM_005188.3(CBL):c.1459A>G (p.Met487Val) rs17848896
NM_005188.3(CBL):c.1495C>A (p.Arg499=) rs778927765
NM_005188.3(CBL):c.1566T>C (p.Ala522=) rs371065029
NM_005188.3(CBL):c.1788C>G (p.Pro596=) rs1060503995
NM_005188.3(CBL):c.1920G>A (p.Thr640=) rs202158626
NM_005188.3(CBL):c.1927C>T (p.Leu643=) rs139939244
NM_005188.3(CBL):c.1942-4C>T rs776366304
NM_005188.3(CBL):c.195+10C>A rs878854755
NM_005188.3(CBL):c.2052A>C (p.Pro684=) rs886047771
NM_005188.3(CBL):c.2097G>A (p.Glu699=) rs1057519031
NM_005188.3(CBL):c.2216C>T (p.Ser739Phe) rs2227986
NM_005188.3(CBL):c.2223G>A (p.Ala741=) rs202229538
NM_005188.3(CBL):c.2251+9C>A rs1439660465
NM_005188.3(CBL):c.2316T>G (p.Asp772Glu) rs774428573
NM_005188.3(CBL):c.2337A>G (p.Pro779=) rs1042340033
NM_005188.3(CBL):c.2359C>T (p.Arg787Cys) rs143132980
NM_005188.3(CBL):c.2363G>A (p.Arg788Gln) rs150811339
NM_005188.3(CBL):c.243A>G (p.Pro81=) rs863224399
NM_005188.3(CBL):c.2542G>A (p.Ala848Thr) rs141710973
NM_005188.3(CBL):c.2691C>T (p.Ser897=) rs762560254
NM_005188.3(CBL):c.444-9C>T rs892852052
NM_005188.3(CBL):c.591-8C>G rs749291716
NM_005188.3(CBL):c.60G>T (p.Ser20=) rs758583427
NM_005188.3(CBL):c.6C>G (p.Ala2=) rs770473070
NM_005188.3(CBL):c.768G>A (p.Arg256=) rs1555229786
NM_005188.3(CBL):c.873T>C (p.Tyr291=) rs756526812

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