ClinVar Miner

List of variants in gene PLG studied for coagulation protein disease

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000301.3(PLG):c.112A>G (p.Lys38Glu) rs73015965
NM_000301.3(PLG):c.1217C>A (p.Pro406Gln)
NM_000301.3(PLG):c.1435G>T (p.Glu479Ter) rs121918032
NM_000301.3(PLG):c.1469G>A (p.Arg490Gln) rs140537724
NM_000301.3(PLG):c.1848G>A (p.Trp616Ter) rs121918031
NM_000301.3(PLG):c.1858G>A (p.Ala620Thr) rs121918027
NM_000301.3(PLG):c.2125+1del rs606231210
NM_000301.3(PLG):c.2278A>G (p.Ser760Gly)
NM_000301.3(PLG):c.687_689GAA[2] (p.Lys231del) rs121918034
NM_000301.3(PLG):c.704G>A (p.Arg235His) rs121918030
NM_000301.3(PLG):c.950+4A>G

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