List of variants in gene CBL reported as uncertain significance for hematologic disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 43

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HGVS	dbSNP	gnomAD frequency
NM_005188.4(CBL):c.*615C>T	rs769151797	0.00047
NM_005188.4(CBL):c.2513G>T (p.Gly838Val)	rs144191570	0.00014
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser)	rs764599897	0.00006
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp)	rs112330156	0.00005
NM_005188.4(CBL):c.1511C>T (p.Pro504Leu)	rs533554769	0.00004
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys)	rs143975631	0.00004
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu)	rs373989524	0.00003
NM_005188.4(CBL):c.1676G>T (p.Arg559Leu)	rs143034856	0.00003
NM_005188.4(CBL):c.1463C>T (p.Ala488Val)	rs377502790	0.00002
NM_005188.4(CBL):c.1783A>G (p.Ile595Val)	rs775675805	0.00002
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln)	rs144894769	0.00002
NM_005188.4(CBL):c.2350G>A (p.Val784Met)	rs140725852	0.00002
NM_005188.4(CBL):c.286C>T (p.Arg96Cys)	rs147438359	0.00002
NM_005188.4(CBL):c.664A>C (p.Met222Leu)	rs773611782	0.00002
NM_005188.4(CBL):c.838C>T (p.Arg280Trp)	rs730880432	0.00002
NM_005188.4(CBL):c.1028G>A (p.Arg343Gln)	rs759585425	0.00001
NM_005188.4(CBL):c.1227+5G>A	rs756550704	0.00001
NM_005188.4(CBL):c.1282C>T (p.Pro428Ser)	rs762677807	0.00001
NM_005188.4(CBL):c.1324C>A (p.Leu442Met)	rs200508558	0.00001
NM_005188.4(CBL):c.1455C>G (p.Phe485Leu)	rs369547447	0.00001
NM_005188.4(CBL):c.202C>T (p.Arg68Trp)	rs730880429	0.00001
NM_005188.4(CBL):c.2055A>G (p.Lys685=)	rs1454595224	0.00001
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys)	rs539217274	0.00001
NM_005188.4(CBL):c.2401G>T (p.Gly801Cys)	rs1465141746	0.00001
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg)	rs587778159	0.00001
NM_005188.4(CBL):c.2584G>A (p.Glu862Lys)	rs397507498	0.00001
NM_005188.4(CBL):c.572G>C (p.Arg191Thr)	rs756736832	0.00001
NM_005188.4(CBL):c.1163A>G (p.Asp388Gly)	rs2135303762
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe)	rs1357686410
NM_005188.4(CBL):c.1243G>A (p.Gly415Ser)	rs756530482
NM_005188.4(CBL):c.1253T>C (p.Phe418Ser)	rs772156285
NM_005188.4(CBL):c.1298C>A (p.Pro433Gln)	rs140627020
NM_005188.4(CBL):c.1618C>T (p.Arg540Ter)	rs764340189
NM_005188.4(CBL):c.1619G>A (p.Arg540Gln)	rs980503623
NM_005188.4(CBL):c.1676G>A (p.Arg559Gln)	rs143034856
NM_005188.4(CBL):c.1850G>T (p.Arg617Leu)	rs780457588
NM_005188.4(CBL):c.2050C>T (p.Pro684Ser)	rs587778154
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del)	rs755938138
NM_005188.4(CBL):c.2435-1_2435del	rs749424087
NM_005188.4(CBL):c.2502A>T (p.Glu834Asp)	rs1950085952
NM_005188.4(CBL):c.2519G>A (p.Cys840Tyr)	rs376536789
NM_005188.4(CBL):c.2654T>C (p.Ile885Thr)
NM_005188.4(CBL):c.434C>G (p.Ser145Cys)

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