ClinVar Miner

List of variants studied for 8q24.3 microdeletion syndrome by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_078480.3(PUF60):c.1342C>T (p.Arg448Ter) rs1563819620
NM_078480.3(PUF60):c.1448T>C (p.Val483Ala) rs1563818514
NM_078480.3(PUF60):c.24+1G>C rs1064795388
NM_078480.3(PUF60):c.407_410del (p.Ile136fs) rs1563826453
NM_078480.3(PUF60):c.505C>T (p.His169Tyr) rs398123001
NM_078480.3(PUF60):c.541G>A (p.Glu181Lys) rs1085307135
NM_078480.3(PUF60):c.901A>T (p.Lys301Ter) rs1563823411

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