ClinVar Miner

Variants in gene MAGEL2 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 33
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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.385A>G (p.Met129Val) rs188762916 0.00109
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.3690G>C (p.Glu1230Asp) rs34875116 0.00083
NM_019066.5(MAGEL2):c.959C>A (p.Ala320Asp) rs541606785 0.00070
NM_019066.5(MAGEL2):c.919C>T (p.Pro307Ser) rs555920534 0.00063
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.135T>A (p.Asp45Glu) rs1273933786 0.00024
NM_019066.5(MAGEL2):c.434C>T (p.Pro145Leu) rs372352945 0.00019
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln) rs199772480 0.00014
NM_019066.5(MAGEL2):c.539T>C (p.Val180Ala) rs58729661 0.00014
NM_019066.5(MAGEL2):c.474A>G (p.Pro158=) rs750481560 0.00009
NM_019066.5(MAGEL2):c.3746G>A (p.Arg1249His) rs745776063 0.00006
NM_019066.5(MAGEL2):c.1894G>A (p.Ala632Thr) rs777626175 0.00003
NM_019066.5(MAGEL2):c.2092G>A (p.Gly698Arg) rs752045093 0.00001
NM_019066.5(MAGEL2):c.42G>A (p.Pro14=) rs794726942 0.00001
NM_019066.5(MAGEL2):c.789T>C (p.Pro263=) rs993057859 0.00001
NM_019066.5(MAGEL2):c.1344ACCCGTGATCCGCCAGGCCCC[1] (p.442PVIRQAP[2]) rs794726941
NM_019066.5(MAGEL2):c.1344_1385del (p.442PVIRQAP[1])
NM_019066.5(MAGEL2):c.1404CCCACCTGTGATCCGCCAGGC[1] (p.464VIRQAPP[3]) rs1386125417
NM_019066.5(MAGEL2):c.1922C>G (p.Pro641Arg) rs556296973
NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu) rs201935129
NM_019066.5(MAGEL2):c.2408C>A (p.Ala803Asp) rs371119917
NM_019066.5(MAGEL2):c.2641C>T (p.Arg881Cys)
NM_019066.5(MAGEL2):c.2919G>A (p.Pro973=) rs544938560
NM_019066.5(MAGEL2):c.3257C>A (p.Ala1086Asp)
NM_019066.5(MAGEL2):c.3406C>A (p.Leu1136Met)
NM_019066.5(MAGEL2):c.579CCCTCCGGGGACACCGATGGCTCATCCTCC[1] (p.181HPPPPGTPMA[4])
NM_019066.5(MAGEL2):c.939CCCACCTGCACAGCCGATGGC[1] (p.314PPAQPMA[1]) rs528108868
NM_019066.5(MAGEL2):c.979G>A (p.Ala327Thr)

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