ClinVar Miner

List of variants studied for Castleman-Kojima disease

Included ClinVar conditions (1):
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Total variants: 7
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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_001754.5(RUNX1):c.259G>T (p.Gly87Cys) rs561166961 0.00003
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
NM_030662.4(MAP2K2):c.383C>T (p.Pro128Leu) rs267607230

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