ClinVar Miner

List of variants studied for Plasminogen deficiency, type I

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000301.5(PLG):c.1878-17G>A rs2859879 0.67668
NM_000301.5(PLG):c.2286T>G (p.Gly762=) rs11060 0.56829
NM_000301.5(PLG):c.*45A>G rs6690 0.55901
NM_000301.5(PLG):c.771T>C (p.Cys257=) rs14224 0.44739
NM_000301.5(PLG):c.942C>T (p.Phe314=) rs1130656 0.35208
NM_000301.5(PLG):c.950+14G>A rs2295368 0.35203
NM_000301.5(PLG):c.330C>T (p.Asn110=) rs4757 0.33236
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00279
NM_000301.5(PLG):c.1469G>A (p.Arg490Gln) rs140537724 0.00140
NM_000301.5(PLG):c.2045T>A (p.Ile682Asn) rs147175166 0.00074
NM_000301.5(PLG):c.1858G>A (p.Ala620Thr) rs121918027 0.00056
NM_000301.5(PLG):c.514A>G (p.Arg172Gly) rs145535174 0.00039
NM_000301.5(PLG):c.2263A>G (p.Ser755Gly) rs1778416234 0.00001
NM_000301.5(PLG):c.704G>A (p.Arg235His) rs121918030 0.00001
NM_000301.5(PLG):c.86A>C (p.Gln29Pro) rs1051644668 0.00001
NM_000301.5(PLG):c.1217C>A (p.Pro406Gln) rs1582940083
NM_000301.5(PLG):c.1435G>T (p.Glu479Ter) rs121918032
NM_000301.5(PLG):c.1848G>A (p.Trp616Ter) rs121918031
NM_000301.5(PLG):c.2019-1G>A rs2115181746
NM_000301.5(PLG):c.2125+1del rs606231210
NM_000301.5(PLG):c.2278A>G (p.Ser760Gly) rs1582955692
NM_000301.5(PLG):c.266G>C (p.Arg89Thr) rs143079629
NM_000301.5(PLG):c.466G>A (p.Asp156Asn) rs756533019
NM_000301.5(PLG):c.677del (p.Asn226fs)
NM_000301.5(PLG):c.687GAA[2] (p.Lys231del) rs121918034
NM_000301.5(PLG):c.886T>G (p.Cys296Gly) rs1777777927
NM_000301.5(PLG):c.950+4A>G rs1582937995

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