ClinVar Miner

List of variants reported as pathogenic for Prader-Willi syndrome by Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_019066.5(MAGEL2):c.1761G>A (p.Trp587Ter) rs1566784441
NM_019066.5(MAGEL2):c.1762C>T (p.Gln588Ter) rs866419580
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710

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