ClinVar Miner

List of variants in gene AGL reported as likely pathogenic for not provided

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_000642.3(AGL):c.1199T>C (p.Leu400Pro) rs1275707003 0.00001
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter) rs766536350
NM_000642.3(AGL):c.1423+1G>T rs751952198
NM_000642.3(AGL):c.2895G>A (p.Trp965Ter) rs2100788592
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.2977_2982del (p.Phe993_Tyr994del) rs1064795630
NM_000642.3(AGL):c.3613C>T (p.Gln1205Ter) rs775498547
NM_000642.3(AGL):c.4259+5G>A rs780504025
NM_000642.3(AGL):c.4506_4510del (p.Glu1502fs) rs1064795728
NM_000642.3(AGL):c.659A>G (p.His220Arg) rs1557749651
NM_000642.3(AGL):c.959-61_965dup rs1553185268

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