ClinVar Miner

List of variants studied for partial deletion of chromosome 8 by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_078480.3(PUF60):c.1006C>T (p.Gln336Ter)
NM_078480.3(PUF60):c.1381-2A>G rs1057518681
NM_078480.3(PUF60):c.1558del (p.Ser520fs) rs1586555859
NM_078480.3(PUF60):c.24+1G>C rs1064795388

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