List of variants in gene TOP2B reported as uncertain significance for B-cell immunodeficiency, distal limb anomalies, and urogenital malformations

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001330700.2(TOP2B):c.1868T>C (p.Ile623Thr)	rs776496462	0.00004
NM_001330700.2(TOP2B):c.2366T>C (p.Ile789Thr)	rs762212071	0.00001
NM_001330700.2(TOP2B):c.3950C>T (p.Thr1317Ile)	rs1329710272	0.00001
NM_001330700.2(TOP2B):c.1303del (p.Trp435fs)
NM_001330700.2(TOP2B):c.1639G>C (p.Glu547Gln)	rs1271271402
NM_001330700.2(TOP2B):c.1912G>A (p.Gly638Ser)	rs2125373730
NM_001330700.2(TOP2B):c.2863G>T (p.Val955Leu)	rs2470326875
NM_001330700.2(TOP2B):c.3230dup (p.Leu1077fs)	rs2470323185
NM_001330700.2(TOP2B):c.3541_3543del (p.Pro1181del)	rs2470314881
NM_001330700.2(TOP2B):c.4054G>A (p.Val1352Met)	rs2529878550
NM_001330700.2(TOP2B):c.4151A>C (p.Asp1384Ala)

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