ClinVar Miner

List of variants in gene MAGEL2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val) rs111759069 0.00733
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273 0.00437
NM_019066.5(MAGEL2):c.1286C>T (p.Pro429Leu) rs2233061 0.00353
NM_019066.5(MAGEL2):c.225G>A (p.Pro75=) rs564216035 0.00309
NM_019066.5(MAGEL2):c.2784C>T (p.Ile928=) rs189752384 0.00284
NM_019066.5(MAGEL2):c.2886C>T (p.Ser962=) rs2233068 0.00262
NM_019066.5(MAGEL2):c.1470G>A (p.Pro490=) rs771501846 0.00157
NM_019066.5(MAGEL2):c.3657G>A (p.Ala1219=) rs140288382 0.00140
NM_019066.5(MAGEL2):c.1304C>T (p.Pro435Leu) rs2233062 0.00132
NM_019066.5(MAGEL2):c.406G>A (p.Gly136Arg) rs570335069 0.00131
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val) rs188762916 0.00109
NM_019066.5(MAGEL2):c.639A>C (p.Pro213=) rs886042708 0.00091
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro) rs146970674 0.00083
NM_019066.5(MAGEL2):c.2362A>T (p.Ser788Cys) rs113329438 0.00083
NM_019066.5(MAGEL2):c.2290G>A (p.Ala764Thr) rs201984254 0.00072
NM_019066.5(MAGEL2):c.919C>T (p.Pro307Ser) rs555920534 0.00063
NM_019066.5(MAGEL2):c.1887C>T (p.Pro629=) rs112088736 0.00061
NM_019066.5(MAGEL2):c.1404C>A (p.Ala468=) rs2233064 0.00049
NM_019066.5(MAGEL2):c.1175C>T (p.Thr392Met) rs781777662 0.00040
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser) rs760039339 0.00040
NM_019066.5(MAGEL2):c.41C>A (p.Pro14Gln) rs769643348 0.00038
NM_019066.5(MAGEL2):c.2971G>A (p.Val991Ile) rs372805925 0.00017
NM_019066.5(MAGEL2):c.1305G>A (p.Pro435=) rs755945170 0.00016
NM_019066.5(MAGEL2):c.539T>C (p.Val180Ala) rs58729661 0.00014
NM_019066.5(MAGEL2):c.137C>T (p.Pro46Leu) rs1433820460 0.00011
NM_019066.5(MAGEL2):c.1620G>A (p.Pro540=) rs943342075 0.00011
NM_019066.5(MAGEL2):c.807C>A (p.Thr269=) rs377155487 0.00011
NM_019066.5(MAGEL2):c.1468C>G (p.Pro490Ala) rs933647897 0.00009
NM_019066.5(MAGEL2):c.474A>G (p.Pro158=) rs750481560 0.00009
NM_019066.5(MAGEL2):c.549T>C (p.Pro183=) rs1484729912 0.00008
NM_019066.5(MAGEL2):c.3483T>C (p.Phe1161=) rs185139848 0.00006
NM_019066.5(MAGEL2):c.3255C>T (p.His1085=) rs140739114 0.00005
NM_019066.5(MAGEL2):c.3388G>A (p.Asp1130Asn) rs189907574 0.00004
NM_019066.5(MAGEL2):c.3227A>C (p.Gln1076Pro) rs916103983 0.00002
NM_019066.5(MAGEL2):c.1221G>A (p.Pro407=) rs1315124369 0.00001
NM_019066.5(MAGEL2):c.1371G>A (p.Val457=) rs1244887976 0.00001
NM_019066.5(MAGEL2):c.1888C>T (p.Leu630=) rs1048036896 0.00001
NM_019066.5(MAGEL2):c.2418C>T (p.Gly806=) rs376390731 0.00001
NM_019066.5(MAGEL2):c.2647G>A (p.Gly883Ser) rs1459626677 0.00001
NM_019066.5(MAGEL2):c.1064C>T (p.Pro355Leu)
NM_019066.5(MAGEL2):c.1065G>A (p.Pro355=)
NM_019066.5(MAGEL2):c.1241C>T (p.Pro414Leu)
NM_019066.5(MAGEL2):c.1249C>A (p.Arg417Ser)
NM_019066.5(MAGEL2):c.126C>A (p.Val42=)
NM_019066.5(MAGEL2):c.1306_1326del (p.Leu436_Pro442del)
NM_019066.5(MAGEL2):c.1326G>C (p.Pro442=)
NM_019066.5(MAGEL2):c.1326_1367del (p.442PVIRQAP[1])
NM_019066.5(MAGEL2):c.1334G>T (p.Arg445Leu)
NM_019066.5(MAGEL2):c.1344A>C (p.Pro448=)
NM_019066.5(MAGEL2):c.1344ACCCGTGATCCGCCAGGCCCC[1] (p.442PVIRQAP[2]) rs794726941
NM_019066.5(MAGEL2):c.1347C>G (p.Pro449=)
NM_019066.5(MAGEL2):c.1347C>T (p.Pro449=)
NM_019066.5(MAGEL2):c.1365A>C (p.Pro455=)
NM_019066.5(MAGEL2):c.1368C>T (p.Pro456=)
NM_019066.5(MAGEL2):c.1404CCCACCTGTGATCCGCCAGGC[1] (p.464VIRQAPP[3]) rs1386125417
NM_019066.5(MAGEL2):c.1407A>C (p.Pro469=)
NM_019066.5(MAGEL2):c.1425C>T (p.Ala475=)
NM_019066.5(MAGEL2):c.1428A>C (p.Pro476=)
NM_019066.5(MAGEL2):c.1476G>A (p.Leu492=)
NM_019066.5(MAGEL2):c.1492C>A (p.Pro498Thr)
NM_019066.5(MAGEL2):c.1524C>T (p.Ala508=)
NM_019066.5(MAGEL2):c.1586_1606dup (p.Gln535_Val536insAlaArgLeuProAlaProGln)
NM_019066.5(MAGEL2):c.1601C>G (p.Pro534Arg)
NM_019066.5(MAGEL2):c.1715C>T (p.Ala572Val) rs1064797195
NM_019066.5(MAGEL2):c.1761G>A (p.Trp587Ter) rs1566784441
NM_019066.5(MAGEL2):c.187_192delinsGGCCCCTG (p.Pro63fs) rs1595334202
NM_019066.5(MAGEL2):c.1908G>C (p.Gln636His)
NM_019066.5(MAGEL2):c.1918C>T (p.Pro640Ser) rs2140714733
NM_019066.5(MAGEL2):c.1924T>A (p.Leu642Met)
NM_019066.5(MAGEL2):c.192C>T (p.Ala64=)
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.2019G>A (p.Pro673=)
NM_019066.5(MAGEL2):c.2025G>C (p.Ala675=)
NM_019066.5(MAGEL2):c.2033C>G (p.Pro678Arg)
NM_019066.5(MAGEL2):c.2064A>T (p.Ala688=)
NM_019066.5(MAGEL2):c.2138C>A (p.Ser713Ter) rs1890380349
NM_019066.5(MAGEL2):c.229G>A (p.Val77Ile)
NM_019066.5(MAGEL2):c.2408C>A (p.Ala803Asp) rs371119917
NM_019066.5(MAGEL2):c.2559C>G (p.Thr853=)
NM_019066.5(MAGEL2):c.2579C>T (p.Ala860Val)
NM_019066.5(MAGEL2):c.257G>C (p.Gly86Ala) rs762897647
NM_019066.5(MAGEL2):c.2641C>T (p.Arg881Cys)
NM_019066.5(MAGEL2):c.2642G>A (p.Arg881His)
NM_019066.5(MAGEL2):c.2642G>T (p.Arg881Leu)
NM_019066.5(MAGEL2):c.2705C>T (p.Thr902Met)
NM_019066.5(MAGEL2):c.275C>T (p.Ala92Val)
NM_019066.5(MAGEL2):c.2803G>A (p.Glu935Lys)
NM_019066.5(MAGEL2):c.2847T>A (p.Pro949=)
NM_019066.5(MAGEL2):c.2885del (p.Ser962fs)
NM_019066.5(MAGEL2):c.290dup (p.Met99fs) rs1401986830
NM_019066.5(MAGEL2):c.2922C>T (p.Ser974=)
NM_019066.5(MAGEL2):c.2970C>T (p.Pro990=)
NM_019066.5(MAGEL2):c.3046C>T (p.Pro1016Ser)
NM_019066.5(MAGEL2):c.3071C>T (p.Ala1024Val)
NM_019066.5(MAGEL2):c.3163A>C (p.Lys1055Gln)
NM_019066.5(MAGEL2):c.3171G>A (p.Glu1057=)
NM_019066.5(MAGEL2):c.3257C>A (p.Ala1086Asp)
NM_019066.5(MAGEL2):c.3406C>A (p.Leu1136Met)
NM_019066.5(MAGEL2):c.3532G>A (p.Ala1178Thr)
NM_019066.5(MAGEL2):c.3656C>T (p.Ala1219Val)
NM_019066.5(MAGEL2):c.3671A>G (p.Glu1224Gly)
NM_019066.5(MAGEL2):c.369G>A (p.Pro123=)
NM_019066.5(MAGEL2):c.3745C>T (p.Arg1249Cys)
NM_019066.5(MAGEL2):c.37C>T (p.Pro13Ser)
NM_019066.5(MAGEL2):c.444A>G (p.Pro148=)
NM_019066.5(MAGEL2):c.44C>T (p.Ala15Val)
NM_019066.5(MAGEL2):c.453C>T (p.His151=)
NM_019066.5(MAGEL2):c.459C>T (p.Pro153=)
NM_019066.5(MAGEL2):c.465G>A (p.Pro155=)
NM_019066.5(MAGEL2):c.476T>C (p.Met159Thr)
NM_019066.5(MAGEL2):c.479CCCATCCTCCTCCTCCGGGGACCCCGATGG[1] (p.160AHPPPPGTPM[1]) rs751352401
NM_019066.5(MAGEL2):c.483T>C (p.His161=)
NM_019066.5(MAGEL2):c.489T>C (p.Pro163=)
NM_019066.5(MAGEL2):c.504G>A (p.Pro168=)
NM_019066.5(MAGEL2):c.540G>C (p.Val180=)
NM_019066.5(MAGEL2):c.540G>T (p.Val180=)
NM_019066.5(MAGEL2):c.558G>T (p.Gly186=)
NM_019066.5(MAGEL2):c.561C>A (p.Thr187=)
NM_019066.5(MAGEL2):c.570T>C (p.Ala190=)
NM_019066.5(MAGEL2):c.570T>G (p.Ala190=)
NM_019066.5(MAGEL2):c.579C>T (p.Pro193=)
NM_019066.5(MAGEL2):c.579CCCTCCGGGGACACCGATGGCTCATCCTCC[1] (p.181HPPPPGTPMA[4])
NM_019066.5(MAGEL2):c.591A>C (p.Thr197=)
NM_019066.5(MAGEL2):c.609C>A (p.Pro203=)
NM_019066.5(MAGEL2):c.60G>T (p.Pro20=) rs765792442
NM_019066.5(MAGEL2):c.630_689del (p.181HPPPPGTPMA[3])
NM_019066.5(MAGEL2):c.653C>T (p.Pro218Leu)
NM_019066.5(MAGEL2):c.886G>C (p.Ala296Pro)
NM_019066.5(MAGEL2):c.939CCCACCTGCACAGCCGATGGC[1] (p.314PPAQPMA[1]) rs528108868
NM_019066.5(MAGEL2):c.96C>G (p.Ala32=)

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