ClinVar Miner

List of variants in gene MAGEL2 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_019066.5(MAGEL2):c.1949A>G (p.Gln650Arg) rs776312553 0.00013
NM_019066.5(MAGEL2):c.1468C>G (p.Pro490Ala) rs933647897 0.00009
NM_019066.5(MAGEL2):c.1535C>T (p.Pro512Leu) rs886043318 0.00005
NM_019066.5(MAGEL2):c.1640C>T (p.Pro547Leu) rs1267794670 0.00002
NM_019066.5(MAGEL2):c.1220C>T (p.Pro407Leu) rs964772041 0.00001
NM_019066.5(MAGEL2):c.2647G>A (p.Gly883Ser) rs1459626677 0.00001
NM_019066.5(MAGEL2):c.2767G>A (p.Glu923Lys) rs1237560243 0.00001
NM_019066.5(MAGEL2):c.2849G>A (p.Ser950Asn) rs1372637645 0.00001
NM_019066.5(MAGEL2):c.1054C>T (p.Pro352Ser) rs1045111596
NM_019066.5(MAGEL2):c.1117C>G (p.Pro373Ala)
NM_019066.5(MAGEL2):c.1189C>A (p.Gln397Lys)
NM_019066.5(MAGEL2):c.1191G>C (p.Gln397His)
NM_019066.5(MAGEL2):c.1237C>A (p.Pro413Thr)
NM_019066.5(MAGEL2):c.1249C>T (p.Arg417Cys)
NM_019066.5(MAGEL2):c.1250G>C (p.Arg417Pro)
NM_019066.5(MAGEL2):c.1289T>A (p.Val430Glu)
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.1333C>G (p.Arg445Gly)
NM_019066.5(MAGEL2):c.1368_1430del (p.Ala463_Pro483del)
NM_019066.5(MAGEL2):c.1375C>T (p.Arg459Cys)
NM_019066.5(MAGEL2):c.1386_1427del (p.Ala463_Pro476del)
NM_019066.5(MAGEL2):c.1390G>C (p.Val464Leu)
NM_019066.5(MAGEL2):c.1397G>A (p.Arg466His)
NM_019066.5(MAGEL2):c.1441C>G (p.Gln481Glu)
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.1592T>C (p.Leu531Pro)
NM_019066.5(MAGEL2):c.1601C>G (p.Pro534Arg)
NM_019066.5(MAGEL2):c.1601C>T (p.Pro534Leu)
NM_019066.5(MAGEL2):c.1680G>T (p.Gln560His)
NM_019066.5(MAGEL2):c.1700C>G (p.Pro567Arg)
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.1780C>T (p.Pro594Ser)
NM_019066.5(MAGEL2):c.1781C>A (p.Pro594His)
NM_019066.5(MAGEL2):c.1840G>A (p.Ala614Thr)
NM_019066.5(MAGEL2):c.1882C>A (p.Gln628Lys)
NM_019066.5(MAGEL2):c.1976T>G (p.Val659Gly)
NM_019066.5(MAGEL2):c.2028G>T (p.Glu676Asp)
NM_019066.5(MAGEL2):c.2060A>T (p.Gln687Leu)
NM_019066.5(MAGEL2):c.223C>G (p.Pro75Ala)
NM_019066.5(MAGEL2):c.2264C>T (p.Thr755Ile)
NM_019066.5(MAGEL2):c.2330C>T (p.Pro777Leu)
NM_019066.5(MAGEL2):c.2339C>T (p.Pro780Leu)
NM_019066.5(MAGEL2):c.2425G>A (p.Ala809Thr)
NM_019066.5(MAGEL2):c.2438C>T (p.Thr813Ile)
NM_019066.5(MAGEL2):c.2456A>G (p.Tyr819Cys)
NM_019066.5(MAGEL2):c.2489C>T (p.Ala830Val)
NM_019066.5(MAGEL2):c.2512C>G (p.Pro838Ala)
NM_019066.5(MAGEL2):c.2593A>G (p.Thr865Ala)
NM_019066.5(MAGEL2):c.2599A>C (p.Thr867Pro)
NM_019066.5(MAGEL2):c.2610G>T (p.Glu870Asp)
NM_019066.5(MAGEL2):c.2652G>C (p.Lys884Asn)
NM_019066.5(MAGEL2):c.281C>T (p.Pro94Leu)
NM_019066.5(MAGEL2):c.2843G>T (p.Gly948Val)
NM_019066.5(MAGEL2):c.2876A>T (p.Glu959Val)
NM_019066.5(MAGEL2):c.290G>C (p.Gly97Ala)
NM_019066.5(MAGEL2):c.290G>T (p.Gly97Val)
NM_019066.5(MAGEL2):c.2911G>C (p.Glu971Gln)
NM_019066.5(MAGEL2):c.2930G>A (p.Arg977Lys)
NM_019066.5(MAGEL2):c.2963C>G (p.Ser988Cys)
NM_019066.5(MAGEL2):c.2990C>T (p.Ala997Val)
NM_019066.5(MAGEL2):c.305C>T (p.Pro102Leu)
NM_019066.5(MAGEL2):c.3088T>C (p.Phe1030Leu)
NM_019066.5(MAGEL2):c.3098T>C (p.Val1033Ala)
NM_019066.5(MAGEL2):c.3118C>G (p.Pro1040Ala)
NM_019066.5(MAGEL2):c.313C>G (p.Pro105Ala)
NM_019066.5(MAGEL2):c.3182T>G (p.Ile1061Ser)
NM_019066.5(MAGEL2):c.3240T>G (p.Ile1080Met)
NM_019066.5(MAGEL2):c.3262A>G (p.Ile1088Val)
NM_019066.5(MAGEL2):c.335C>T (p.Pro112Leu)
NM_019066.5(MAGEL2):c.3431G>A (p.Arg1144Gln)
NM_019066.5(MAGEL2):c.3442G>A (p.Gly1148Ser)
NM_019066.5(MAGEL2):c.3676G>C (p.Glu1226Gln)
NM_019066.5(MAGEL2):c.3703A>C (p.Thr1235Pro)
NM_019066.5(MAGEL2):c.3739C>G (p.Pro1247Ala)
NM_019066.5(MAGEL2):c.40C>T (p.Pro14Ser)
NM_019066.5(MAGEL2):c.445A>G (p.Met149Val)
NM_019066.5(MAGEL2):c.477G>A (p.Met159Ile)
NM_019066.5(MAGEL2):c.479CCCATCCTCCTCCTCCGGGGACCCCGATGG[3] (p.Met179_Val180insAlaHisProProProProGlyThrProMet)
NM_019066.5(MAGEL2):c.493C>G (p.Pro165Ala)
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.584C>T (p.Pro195Leu)
NM_019066.5(MAGEL2):c.614C>T (p.Pro205Leu)
NM_019066.5(MAGEL2):c.625A>C (p.Met209Leu)
NM_019066.5(MAGEL2):c.628G>T (p.Ala210Ser)
NM_019066.5(MAGEL2):c.653C>G (p.Pro218Arg)
NM_019066.5(MAGEL2):c.653C>T (p.Pro218Leu)
NM_019066.5(MAGEL2):c.655A>C (p.Met219Leu) rs1131691344
NM_019066.5(MAGEL2):c.659C>T (p.Ala220Val)
NM_019066.5(MAGEL2):c.674C>G (p.Pro225Arg)
NM_019066.5(MAGEL2):c.67T>C (p.Tyr23His) rs943915263
NM_019066.5(MAGEL2):c.685A>C (p.Met229Leu)
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.830C>T (p.Pro277Leu)
NM_019066.5(MAGEL2):c.836C>T (p.Ala279Val)
NM_019066.5(MAGEL2):c.848G>C (p.Gly283Ala)
NM_019066.5(MAGEL2):c.871C>T (p.Pro291Ser)
NM_019066.5(MAGEL2):c.890C>T (p.Pro297Leu)
NM_019066.5(MAGEL2):c.919C>A (p.Pro307Thr)
NM_019066.5(MAGEL2):c.928C>G (p.Gln310Glu)
NM_019066.5(MAGEL2):c.959C>T (p.Ala320Val)
NM_019066.5(MAGEL2):c.997G>C (p.Ala333Pro)

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