ClinVar Miner

List of variants in gene MAGEL2 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 30
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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.1470G>A (p.Pro490=) rs771501846 0.00157
NM_019066.5(MAGEL2):c.406G>A (p.Gly136Arg) rs570335069 0.00131
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro) rs146970674 0.00083
NM_019066.5(MAGEL2):c.3690G>C (p.Glu1230Asp) rs34875116 0.00083
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.2660G>A (p.Arg887Gln) rs199772480 0.00014
NM_019066.5(MAGEL2):c.448T>C (p.Ser150Pro) rs541262134 0.00012
NM_019066.5(MAGEL2):c.474A>G (p.Pro158=) rs750481560 0.00009
NM_019066.5(MAGEL2):c.2738C>T (p.Pro913Leu) rs778826873 0.00007
NM_019066.5(MAGEL2):c.1949A>G (p.Gln650Arg) rs776312553 0.00006
NM_019066.5(MAGEL2):c.1535C>T (p.Pro512Leu) rs886043318 0.00005
NM_019066.5(MAGEL2):c.410C>T (p.Ala137Val) rs1191390513 0.00004
NM_019066.5(MAGEL2):c.831G>A (p.Pro277=) rs886043778 0.00003
NM_019066.5(MAGEL2):c.1507G>A (p.Ala503Thr) rs1331788296 0.00001
NM_019066.5(MAGEL2):c.2849G>A (p.Ser950Asn) rs1372637645 0.00001
NM_019066.5(MAGEL2):c.367C>G (p.Pro123Ala) rs1220967831 0.00001
NM_019066.5(MAGEL2):c.42G>A (p.Pro14=) rs794726942 0.00001
NM_019066.5(MAGEL2):c.773C>G (p.Pro258Arg) rs1240010230 0.00001
NM_019066.5(MAGEL2):c.1344ACCCGTGATCCGCCAGGCCCC[1] (p.442PVIRQAP[2]) rs794726941
NM_019066.5(MAGEL2):c.1404CCCACCTGTGATCCGCCAGGC[1] (p.464VIRQAPP[3]) rs1386125417
NM_019066.5(MAGEL2):c.1467_1487del (p.Leu492_Pro498del) rs886042349
NM_019066.5(MAGEL2):c.2572A>T (p.Thr858Ser) rs1343066533
NM_019066.5(MAGEL2):c.2919G>A (p.Pro973=) rs544938560
NM_019066.5(MAGEL2):c.3261T>C (p.Tyr1087=) rs150927765
NM_019066.5(MAGEL2):c.3570G>A (p.Leu1190=) rs794726943
NM_019066.5(MAGEL2):c.427C>T (p.Pro143Ser) rs751155950
NM_019066.5(MAGEL2):c.479CCCATCCTCCTCCTCCGGGGACCCCGATGG[1] (p.160AHPPPPGTPM[1]) rs751352401
NM_019066.5(MAGEL2):c.939CCCACCTGCACAGCCGATGGC[1] (p.314PPAQPMA[1]) rs528108868

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