ClinVar Miner

List of variants in gene IGLL1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_020070.4(IGLL1):c.549C>T (p.Pro183=) rs75088277 0.02804
NM_020070.4(IGLL1):c.276C>T (p.Asn92=) rs116275804 0.02588
NM_020070.4(IGLL1):c.464C>T (p.Pro155Leu) rs145176864 0.02290
NM_020070.4(IGLL1):c.507C>T (p.Ser169=) rs74519217 0.02030
NM_020070.4(IGLL1):c.512A>G (p.Asn171Ser) rs1064421 0.00740
NM_020070.4(IGLL1):c.309G>A (p.Gln103=) rs114285337 0.00642
NM_020070.4(IGLL1):c.420T>C (p.Phe140=) rs1064423 0.00135
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) rs139491925 0.00106
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) rs1064422 0.00104
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) rs112775194 0.00100
NM_020070.4(IGLL1):c.284C>A (p.Thr95Lys) rs116041505
NM_020070.4(IGLL1):c.300C>T (p.Ser100=) rs115303391
NM_020070.4(IGLL1):c.485T>A (p.Met162Lys) rs111903752
NM_020070.4(IGLL1):c.97G>A (p.Val33Met) rs116760479

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