ClinVar Miner

List of variants in gene TOP3A reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004618.5(TOP3A):c.2779G>T (p.Glu927Ter) rs578143841 0.00018
NM_004618.5(TOP3A):c.1643G>A (p.Arg548Gln) rs151096656 0.00007
NM_004618.5(TOP3A):c.2056C>T (p.Arg686Cys) rs1239276927 0.00001
NM_004618.5(TOP3A):c.1712G>T (p.Gly571Val)
NM_004618.5(TOP3A):c.2228C>G (p.Thr743Ser)

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