ClinVar Miner

List of variants in gene MAGEL2 reported as likely pathogenic for chromosomal disorder

Included ClinVar conditions (212):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_019066.5(MAGEL2):c.3559C>T (p.Arg1187Ter) rs368965952 0.00001
NM_019066.5(MAGEL2):c.1015C>T (p.Gln339Ter) rs2140717180
NM_019066.5(MAGEL2):c.1104G>A (p.Trp368Ter) rs2140717041
NM_019066.5(MAGEL2):c.1597del (p.Ala533fs) rs2503980170
NM_019066.5(MAGEL2):c.1621C>T (p.Gln541Ter) rs1555374290
NM_019066.5(MAGEL2):c.1653dup (p.Pro552fs)
NM_019066.5(MAGEL2):c.1656del (p.Ala553fs) rs2503979926
NM_019066.5(MAGEL2):c.1687C>T (p.Gln563Ter) rs2140715275
NM_019066.5(MAGEL2):c.1808C>G (p.Ser603Ter) rs1595332731
NM_019066.5(MAGEL2):c.1923dup (p.Val643fs) rs2503979002
NM_019066.5(MAGEL2):c.1984C>T (p.Gln662Ter)
NM_019066.5(MAGEL2):c.2055del (p.Trp686fs) rs2503978491
NM_019066.5(MAGEL2):c.2057G>A (p.Trp686Ter) rs768844200
NM_019066.5(MAGEL2):c.224del (p.Pro75fs) rs2140719261
NM_019066.5(MAGEL2):c.2319del (p.Ala772_Trp773insTer) rs2503977497
NM_019066.5(MAGEL2):c.2646del (p.Gly883fs) rs2140713406
NM_019066.5(MAGEL2):c.2745dup (p.Asn916fs)
NM_019066.5(MAGEL2):c.2840delinsTTT (p.Glu947fs) rs2503975945
NM_019066.5(MAGEL2):c.2847_2883del (p.Ser950fs) rs1890358679
NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer) rs1890356742
NM_019066.5(MAGEL2):c.3131C>A (p.Ser1044Ter) rs1267004913
NM_019066.5(MAGEL2):c.3449_3450del (p.Phe1150fs) rs998860333
NM_019066.5(MAGEL2):c.3583del (p.Met1195fs) rs2140711872
NM_019066.5(MAGEL2):c.3628C>T (p.Gln1210Ter) rs2503973638
NM_019066.5(MAGEL2):c.648del (p.Thr217fs) rs2140718089

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