ClinVar Miner

List of variants in gene MAGEL2 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_019066.5(MAGEL2):c.1286C>T (p.Pro429Leu) rs2233061 0.00353
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val) rs188762916 0.00109
NM_019066.5(MAGEL2):c.2362A>T (p.Ser788Cys) rs113329438 0.00083
NM_019066.5(MAGEL2):c.959C>A (p.Ala320Asp) rs541606785 0.00070
NM_019066.5(MAGEL2):c.494C>T (p.Pro165Leu) rs572249702 0.00045
NM_019066.5(MAGEL2):c.1175C>T (p.Thr392Met) rs781777662 0.00040
NM_019066.5(MAGEL2):c.41C>A (p.Pro14Gln) rs769643348 0.00038
NM_019066.5(MAGEL2):c.434C>T (p.Pro145Leu) rs372352945 0.00019
NM_019066.5(MAGEL2):c.539T>C (p.Val180Ala) rs58729661 0.00014
NM_019066.5(MAGEL2):c.2006A>T (p.Gln669Leu) rs549023784 0.00013
NM_019066.5(MAGEL2):c.448T>C (p.Ser150Pro) rs541262134 0.00012
NM_019066.5(MAGEL2):c.1468C>G (p.Pro490Ala) rs933647897 0.00009
NM_019066.5(MAGEL2):c.764C>T (p.Pro255Leu) rs192154215 0.00006
NM_019066.5(MAGEL2):c.1535C>T (p.Pro512Leu) rs886043318 0.00005
NM_019066.5(MAGEL2):c.3388G>A (p.Asp1130Asn) rs189907574 0.00004
NM_019066.5(MAGEL2):c.2792C>T (p.Ser931Leu) rs531503349 0.00002
NM_019066.5(MAGEL2):c.2767G>A (p.Glu923Lys) rs1237560243 0.00001
NM_019066.5(MAGEL2):c.1117C>G (p.Pro373Ala)
NM_019066.5(MAGEL2):c.1249C>T (p.Arg417Cys)
NM_019066.5(MAGEL2):c.1292G>C (p.Arg431Pro)
NM_019066.5(MAGEL2):c.1296G>C (p.Gln432His)
NM_019066.5(MAGEL2):c.1313G>A (p.Arg438His)
NM_019066.5(MAGEL2):c.1323_1385del (p.Pro442_Pro462del)
NM_019066.5(MAGEL2):c.1333C>G (p.Arg445Gly)
NM_019066.5(MAGEL2):c.1368_1430del (p.Ala463_Pro483del)
NM_019066.5(MAGEL2):c.1386_1406del (p.Ala463_Pro469del) rs1273738588
NM_019066.5(MAGEL2):c.1387_1407del (p.Ala463_Pro469del)
NM_019066.5(MAGEL2):c.1390G>C (p.Val464Leu)
NM_019066.5(MAGEL2):c.1397G>A (p.Arg466His)
NM_019066.5(MAGEL2):c.1459C>T (p.Arg487Cys)
NM_019066.5(MAGEL2):c.1472C>T (p.Pro491Leu)
NM_019066.5(MAGEL2):c.1490C>T (p.Pro497Leu)
NM_019066.5(MAGEL2):c.1492C>A (p.Pro498Thr)
NM_019066.5(MAGEL2):c.1601del (p.Pro534fs) rs1890397401
NM_019066.5(MAGEL2):c.1706C>T (p.Pro569Leu)
NM_019066.5(MAGEL2):c.1726G>A (p.Ala576Thr)
NM_019066.5(MAGEL2):c.1742A>C (p.His581Pro)
NM_019066.5(MAGEL2):c.1747C>T (p.Pro583Ser)
NM_019066.5(MAGEL2):c.1772A>G (p.Lys591Arg)
NM_019066.5(MAGEL2):c.1774G>A (p.Gly592Ser)
NM_019066.5(MAGEL2):c.1780C>T (p.Pro594Ser)
NM_019066.5(MAGEL2):c.1781C>A (p.Pro594His)
NM_019066.5(MAGEL2):c.1882C>A (p.Gln628Lys)
NM_019066.5(MAGEL2):c.1906C>T (p.Gln636Ter) rs765424967
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019066.5(MAGEL2):c.1921C>G (p.Pro641Ala)
NM_019066.5(MAGEL2):c.1923dup (p.Val643fs)
NM_019066.5(MAGEL2):c.1944del (p.Gln650fs) rs1890386731
NM_019066.5(MAGEL2):c.1976T>G (p.Val659Gly)
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.2028G>T (p.Glu676Asp)
NM_019066.5(MAGEL2):c.2228G>A (p.Arg743Lys)
NM_019066.5(MAGEL2):c.2230G>A (p.Ala744Thr)
NM_019066.5(MAGEL2):c.224C>T (p.Pro75Leu)
NM_019066.5(MAGEL2):c.2425G>A (p.Ala809Thr)
NM_019066.5(MAGEL2):c.2426C>A (p.Ala809Asp)
NM_019066.5(MAGEL2):c.2459C>T (p.Ala820Val)
NM_019066.5(MAGEL2):c.2593A>G (p.Thr865Ala)
NM_019066.5(MAGEL2):c.2610G>T (p.Glu870Asp)
NM_019066.5(MAGEL2):c.2638C>T (p.Arg880Cys)
NM_019066.5(MAGEL2):c.2639G>A (p.Arg880His)
NM_019066.5(MAGEL2):c.263C>T (p.Pro88Leu)
NM_019066.5(MAGEL2):c.2652G>C (p.Lys884Asn)
NM_019066.5(MAGEL2):c.2659C>T (p.Arg887Trp)
NM_019066.5(MAGEL2):c.2818C>T (p.Pro940Ser)
NM_019066.5(MAGEL2):c.2821C>T (p.Arg941Cys)
NM_019066.5(MAGEL2):c.2822G>A (p.Arg941His)
NM_019066.5(MAGEL2):c.2861T>C (p.Ile954Thr)
NM_019066.5(MAGEL2):c.2870G>T (p.Gly957Val)
NM_019066.5(MAGEL2):c.2887G>A (p.Ala963Thr)
NM_019066.5(MAGEL2):c.290G>A (p.Gly97Asp)
NM_019066.5(MAGEL2):c.2963C>G (p.Ser988Cys)
NM_019066.5(MAGEL2):c.2990C>T (p.Ala997Val)
NM_019066.5(MAGEL2):c.3088T>C (p.Phe1030Leu)
NM_019066.5(MAGEL2):c.3098T>C (p.Val1033Ala)
NM_019066.5(MAGEL2):c.3122del (p.Val1041fs) rs1555374117
NM_019066.5(MAGEL2):c.313C>G (p.Pro105Ala)
NM_019066.5(MAGEL2):c.3240T>G (p.Ile1080Met)
NM_019066.5(MAGEL2):c.3244A>G (p.Thr1082Ala)
NM_019066.5(MAGEL2):c.3256G>A (p.Ala1086Thr)
NM_019066.5(MAGEL2):c.3257C>A (p.Ala1086Asp)
NM_019066.5(MAGEL2):c.3431G>A (p.Arg1144Gln)
NM_019066.5(MAGEL2):c.3475G>A (p.Glu1159Lys)
NM_019066.5(MAGEL2):c.3661G>A (p.Ala1221Thr) rs779840896
NM_019066.5(MAGEL2):c.3739C>G (p.Pro1247Ala)
NM_019066.5(MAGEL2):c.40C>A (p.Pro14Thr)
NM_019066.5(MAGEL2):c.40C>T (p.Pro14Ser)
NM_019066.5(MAGEL2):c.475A>G (p.Met159Val)
NM_019066.5(MAGEL2):c.479CCCATCCTCCTCCTCCGGGGACCCCGATGG[3] (p.Met179_Val180insAlaHisProProProProGlyThrProMet)
NM_019066.5(MAGEL2):c.530C>A (p.Thr177Asn)
NM_019066.5(MAGEL2):c.562C>T (p.Pro188Ser)
NM_019066.5(MAGEL2):c.563C>T (p.Pro188Leu)
NM_019066.5(MAGEL2):c.579CCCTCCGGGGACACCGATGGCTCATCCTCC[1] (p.181HPPPPGTPMA[4])
NM_019066.5(MAGEL2):c.625A>C (p.Met209Leu)
NM_019066.5(MAGEL2):c.653C>G (p.Pro218Arg)
NM_019066.5(MAGEL2):c.653C>T (p.Pro218Leu)
NM_019066.5(MAGEL2):c.674C>G (p.Pro225Arg)
NM_019066.5(MAGEL2):c.67T>C (p.Tyr23His) rs943915263
NM_019066.5(MAGEL2):c.773C>T (p.Pro258Leu)
NM_019066.5(MAGEL2):c.790C>A (p.Pro264Thr)
NM_019066.5(MAGEL2):c.803T>C (p.Met268Thr)
NM_019066.5(MAGEL2):c.871C>T (p.Pro291Ser)
NM_019066.5(MAGEL2):c.959C>T (p.Ala320Val)
NM_019066.5(MAGEL2):c.979G>A (p.Ala327Thr)
NM_019066.5(MAGEL2):c.997G>C (p.Ala333Pro)

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