ClinVar Miner

List of variants in gene TOP6BL studied for pregnancy disorder

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001302084.2(TOP6BL):c.1006T>C (p.Ser336Pro) rs1449401018 0.00001
NM_001302084.2(TOP6BL):c.1273_1274del (p.Lys425fs)
NM_001302084.2(TOP6BL):c.285dup (p.Glu96Ter) rs779402951

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