ClinVar Miner

List of variants in gene TOP2B studied for B-cell immunodeficiency, distal limb anomalies, and urogenital malformations

Included ClinVar conditions (1):
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001330700.2(TOP2B):c.4715C>T (p.Pro1572Leu) rs62638670 0.00147
NM_001330700.2(TOP2B):c.2366T>C (p.Ile789Thr) rs762212071 0.00001
NM_001330700.2(TOP2B):c.1463C>T (p.Ser488Leu) rs2125377904
NM_001330700.2(TOP2B):c.1468G>C (p.Ala490Pro) rs2125377898
NM_001330700.2(TOP2B):c.1639G>C (p.Glu547Gln)
NM_001330700.2(TOP2B):c.1776_1778del (p.Glu593del) rs2125376009
NM_001330700.2(TOP2B):c.1912G>A (p.Gly638Ser) rs2125373730
NM_001330700.2(TOP2B):c.2863G>T (p.Val955Leu)
NM_001330700.2(TOP2B):c.3230dup (p.Leu1077fs)
NM_001330700.2(TOP2B):c.3451C>G (p.Leu1151Val) rs1702479861
NM_001330700.2(TOP2B):c.3541_3543del (p.Pro1181del)
NM_001330700.2(TOP2B):c.3950C>T (p.Thr1317Ile)
NM_001330700.2(TOP2B):c.4054G>A (p.Val1352Met)

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