List of variants reported as pathogenic for Prader-Willi syndrome by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_019066.5(MAGEL2):c.1613C>A (p.Ala538Glu)	rs1013540105
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter)	rs1555374290
NM_019066.5(MAGEL2):c.1652del (p.Val551fs)	rs398122415
NM_019066.5(MAGEL2):c.1802del (p.Pro601fs)	rs398122416
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter)	rs797044883
NM_019066.5(MAGEL2):c.1996del (p.Gln666fs)	rs770374710
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)	rs770374710
NM_019066.5(MAGEL2):c.2118del (p.Leu708fs)	rs1555374227
NM_019066.5(MAGEL2):c.3124C>T (p.Gln1042Ter)	rs398122418
NM_019066.5(MAGEL2):c.3181_3182del (p.Ile1061fs)	rs398122417

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