ClinVar Miner

List of variants in gene CBLB reported as not provided by ITMI

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_170662.5(CBLB):c.2647A>G (p.Asn883Asp) rs35835913 0.01914
NM_170662.5(CBLB):c.1865G>C (p.Ser622Thr) rs41302192 0.00495
NM_170662.5(CBLB):c.1934A>G (p.His645Arg) rs41311396 0.00063
NM_170662.5(CBLB):c.2702C>G (p.Ala901Gly) rs55821768 0.00044
NM_170662.5(CBLB):c.1670C>T (p.Pro557Leu) rs148064625 0.00021
NM_170662.5(CBLB):c.743G>A (p.Arg248Gln) rs560042700 0.00013
NM_170662.5(CBLB):c.-14-1G>T rs55944080 0.00009
NM_170662.5(CBLB):c.1913T>C (p.Leu638Pro) rs587778164 0.00009
NM_001321790.2(CBLB):c.20C>G (p.Pro7Arg) rs552303618 0.00002
NM_170662.5(CBLB):c.2881G>A (p.Glu961Lys) rs561530977 0.00002
NM_170662.5(CBLB):c.1193C>T (p.Thr398Met) rs568168857 0.00001
NM_170662.5(CBLB):c.1860_1862dup (p.Ala621dup) rs587778163
NM_170662.5(CBLB):c.821A>C (p.Gln274Pro) rs587778165

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