ClinVar Miner

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

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Gene type:
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Total variants: 13
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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.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.2138C>A (p.Ser713Ter) rs1890380349
NM_019066.5(MAGEL2):c.2298_2299del (p.Ala767fs) rs1432429004
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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