ClinVar Miner

List of variants reported as uncertain significance for Castleman-Kojima disease by Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000044.6(AR):c.1937C>A (p.Ala646Asp) rs1800053 0.00123
NM_001039396.2(MPEG1):c.661C>A (p.Leu221Ile) rs763186541 0.00010
NM_152641.4(ARID2):c.3577A>G (p.Thr1193Ala) rs145854622 0.00003
NM_003200.5(TCF3):c.1040A>C (p.Asn347Thr) rs1369361815
NM_014727.3(KMT2B):c.1108_1109del (p.Glu370fs) rs1599669544

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