ClinVar Miner

List of variants reported as pathogenic for Prader-Willi syndrome by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_019066.5(MAGEL2):c.2958del (p.Ser987fs) rs1060499934
NM_019066.5(MAGEL2):c.3208G>T (p.Glu1070Ter) rs869312694

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