ClinVar Miner

List of variants in gene USP7 reported as pathogenic for autosomal anomaly

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_003470.3(USP7):c.1722del (p.Gln574fs)
NM_003470.3(USP7):c.1728T>A (p.Cys576Ter) rs2061808524
NM_003470.3(USP7):c.2169_2170del (p.Arg723fs) rs1555462347
NM_003470.3(USP7):c.247_250del (p.Glu83fs)
NM_003470.3(USP7):c.3202+1G>T rs2061653217
NM_003470.3(USP7):c.429C>G (p.Tyr143Ter) rs756550597
NM_003470.3(USP7):c.675G>A (p.Met225Ile) rs1555465642
NM_003470.3(USP7):c.701dup (p.Thr235fs)

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