ClinVar Miner

List of variants studied for 8q24.3 microdeletion syndrome by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_078480.3(PUF60):c.284_285del (p.Leu95fs) rs1817027997
NM_078480.3(PUF60):c.389G>C (p.Arg130Pro) rs1554643584
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) rs1131692232
NM_078480.3(PUF60):c.612_630del (p.Asn207fs) rs1816565452
NM_078480.3(PUF60):c.712_713del (p.Ser238fs) rs1816555365
NM_078480.3(PUF60):c.746_747insCACAC (p.Gly250fs) rs1816551992

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