ClinVar Miner

List of variants in gene CBL reported as benign for RASopathy

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_005188.2:c.1227+20insC
NM_005188.2:c.1228-10insT
NM_005188.3(CBL):c.107_109ACC[6] (p.His42del) rs373212940
NM_005188.3(CBL):c.107_109ACC[8] (p.His42dup) rs373212940
NM_005188.3(CBL):c.1095+19G>T rs2510152
NM_005188.3(CBL):c.1227+4C>T rs201747825
NM_005188.3(CBL):c.1299G>A (p.Pro433=) rs199633558
NM_005188.3(CBL):c.1359A>C (p.Pro453=) rs34732429
NM_005188.3(CBL):c.1485G>A (p.Pro495=) rs2229072
NM_005188.3(CBL):c.1629A>G (p.Pro543=) rs558577411
NM_005188.3(CBL):c.1641T>C (p.Pro547=) rs61755280
NM_005188.3(CBL):c.1858C>T (p.Leu620Phe) rs2227988
NM_005188.3(CBL):c.2036+9G>T rs142704935
NM_005188.3(CBL):c.2190G>C (p.Thr730=) rs143840974
NM_005188.3(CBL):c.2269G>A (p.Ala757Thr) rs146517083
NM_005188.3(CBL):c.2345C>T (p.Pro782Leu) rs2229073
NM_005188.3(CBL):c.2484G>A (p.Pro828=) rs149533467
NM_005188.3(CBL):c.2592C>T (p.Leu864=) rs1893177
NM_005188.3(CBL):c.2710G>A (p.Val904Ile) rs17122769
NM_005188.3(CBL):c.513T>C (p.Ser171=) rs2227987
NM_005188.3(CBL):c.869+19A>G rs181589369
NM_005188.3(CBL):c.869+4A>G rs77284821

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