ClinVar Miner

List of variants in gene MAGEL2 reported as pathogenic for Schaaf-Yang syndrome

Included ClinVar conditions (4):
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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_019066.5(MAGEL2):c.277C>T (p.Pro93Ser) rs899176705 0.00001
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.1761G>A (p.Trp587Ter) rs1566784441
NM_019066.5(MAGEL2):c.1762C>T (p.Gln588Ter) rs866419580
NM_019066.5(MAGEL2):c.1802del (p.Pro601fs) rs398122416
NM_019066.5(MAGEL2):c.188dup (p.Ala64fs) rs1595334203
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019066.5(MAGEL2):c.1930C>T (p.Gln644Ter) rs1890387347
NM_019066.5(MAGEL2):c.1996C>T (p.Gln666Ter) rs752097874
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.2199del (p.Glu734fs) rs1595332359
NM_019066.5(MAGEL2):c.2216del (p.Ser738_Ser739insTer) rs2140714112
NM_019066.5(MAGEL2):c.2895G>A (p.Trp965Ter)
NM_019066.5(MAGEL2):c.2958del (p.Ser987fs) rs1060499934
NM_019066.5(MAGEL2):c.3124C>T (p.Gln1042Ter) rs398122418
NM_019066.5(MAGEL2):c.3181_3182del (p.Ile1061fs) rs398122417
NM_019066.5(MAGEL2):c.3208G>T (p.Glu1070Ter) rs869312694
NM_019066.5(MAGEL2):c.3246del (p.Asn1084fs) rs1595331427

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