ClinVar Miner

List of variants in gene CBL studied for Inborn genetic diseases

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg) rs143264567 0.00035
NM_005188.4(CBL):c.2588A>G (p.Asn863Ser) rs146250423 0.00019
NM_005188.4(CBL):c.2312A>T (p.Asp771Val) rs199788586 0.00010
NM_005188.4(CBL):c.2126G>A (p.Arg709Gln) rs770667508 0.00007
NM_005188.4(CBL):c.2262T>G (p.Asn754Lys) rs148139669 0.00006
NM_005188.4(CBL):c.1477C>T (p.Leu493Phe) rs730880434 0.00004
NM_005188.4(CBL):c.1031A>G (p.Asn344Ser) rs370489946 0.00002
NM_005188.4(CBL):c.1468C>G (p.Gln490Glu) rs1368426444 0.00002
NM_005188.4(CBL):c.560C>T (p.Ala187Val) rs587778162 0.00002
NM_005188.4(CBL):c.1298C>T (p.Pro433Leu) rs140627020 0.00001
NM_005188.4(CBL):c.2692A>G (p.Ile898Val) rs397507499 0.00001
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005188.4(CBL):c.1099C>A (p.Gln367Lys) rs727504504
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.4(CBL):c.1129A>G (p.Thr377Ala) rs727502914
NM_005188.4(CBL):c.1166A>C (p.Lys389Thr) rs1949904868
NM_005188.4(CBL):c.1210T>C (p.Cys404Arg) rs1949905314
NM_005188.4(CBL):c.1349C>T (p.Ala450Val)
NM_005188.4(CBL):c.1498C>T (p.Leu500Phe) rs1949969949
NM_005188.4(CBL):c.2048T>C (p.Val683Ala)
NM_005188.4(CBL):c.2336C>T (p.Pro779Leu)
NM_005188.4(CBL):c.2638A>C (p.Ile880Leu)
NM_005188.4(CBL):c.2675_2676del (p.Leu892fs) rs1950088243
NM_005188.4(CBL):c.787G>A (p.Val263Ile)

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