ClinVar Miner

List of variants in gene MAGEL2 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_019066.5(MAGEL2):c.3151C>A (p.Leu1051Ile) rs2233070 0.03565
NM_019066.5(MAGEL2):c.2611G>T (p.Ala871Ser) rs2233066 0.00969
NM_019066.5(MAGEL2):c.2612C>T (p.Ala871Val) rs74004212 0.00969
NM_019066.5(MAGEL2):c.3229T>C (p.Leu1077=) rs2233071 0.00936
NM_019066.5(MAGEL2):c.383T>C (p.Leu128Pro) rs191559595 0.00841
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.3690G>C (p.Glu1230Asp) rs34875116 0.00083
NM_019066.5(MAGEL2):c.764C>T (p.Pro255Leu) rs192154215 0.00006
NM_019066.5(MAGEL2):c.3273C>T (p.Asn1091=) rs369033422 0.00003
NM_019066.5(MAGEL2):c.789T>C (p.Pro263=) rs993057859 0.00001
NM_019066.5(MAGEL2):c.474_503del (p.160AHPPPPGTPM[1]) rs754729041
NM_019066.5(MAGEL2):c.579C>A (p.Pro193=) rs113984257
NM_019066.5(MAGEL2):c.822A>T (p.Ser274=) rs1555374395
NM_019066.5(MAGEL2):c.939CCCACCTGCACAGCCGATGGC[1] (p.314PPAQPMA[1]) rs528108868

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