List of variants in gene MAGEL2 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_019066.5(MAGEL2):c.1146G>A (p.Trp382Ter)	rs1555374335	0.00001
NM_019066.5(MAGEL2):c.2296C>T (p.Arg766Ter)	rs1249139977	0.00001
NM_019066.5(MAGEL2):c.1021C>T (p.Gln341Ter)	rs2140717169
NM_019066.5(MAGEL2):c.1036del (p.Arg346fs)	rs2140717155
NM_019066.5(MAGEL2):c.1168C>T (p.Gln390Ter)
NM_019066.5(MAGEL2):c.187_192delinsGGCCCCTG (p.Pro63fs)	rs1595334202
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter)	rs797044883
NM_019066.5(MAGEL2):c.1A>C (p.Met1Leu)	rs1350074368
NM_019066.5(MAGEL2):c.2060_2085del (p.Gln687fs)	rs1595332462
NM_019066.5(MAGEL2):c.2099del (p.Pro700fs)
NM_019066.5(MAGEL2):c.2138C>A (p.Ser713Ter)	rs1890380349
NM_019066.5(MAGEL2):c.2298_2299del (p.Ala767fs)	rs1432429004
NM_019066.5(MAGEL2):c.2885del (p.Ser962fs)
NM_019066.5(MAGEL2):c.290dup (p.Met99fs)	rs1401986830
NM_019066.5(MAGEL2):c.362del (p.Gln121fs)	rs1890442258
NM_019066.5(MAGEL2):c.535del (p.Met179fs)	rs2140718451

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