ClinVar Miner

List of variants in gene PLG reported as uncertain significance for coagulation protein disease

Included ClinVar conditions (69):
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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_000301.5(PLG):c.1469G>A (p.Arg490Gln) rs140537724 0.00140
NM_000301.5(PLG):c.2045T>A (p.Ile682Asn) rs147175166 0.00073
NM_000301.5(PLG):c.514A>G (p.Arg172Gly) rs145535174 0.00039
NM_000301.5(PLG):c.1735G>A (p.Gly579Arg) rs138728014 0.00027
NM_000301.5(PLG):c.2134G>A (p.Gly712Arg) rs202074006 0.00022
NM_000301.5(PLG):c.317G>C (p.Gly106Ala) rs778599053 0.00016
NM_000301.5(PLG):c.1997T>C (p.Ile666Thr) rs764647453 0.00010
NM_000301.5(PLG):c.505C>A (p.Pro169Thr) rs143256245 0.00009
NM_000301.5(PLG):c.115A>C (p.Lys39Gln) rs138353396 0.00008
NM_000301.5(PLG):c.669-3C>G rs368764348 0.00007
NM_000301.5(PLG):c.646G>A (p.Ala216Thr) rs374234922 0.00006
NM_000301.5(PLG):c.368C>T (p.Thr123Ile) rs370856655 0.00004
NM_000301.5(PLG):c.1394C>T (p.Pro465Leu) rs374995543 0.00003
NM_000301.5(PLG):c.17T>C (p.Val6Ala) rs764121149 0.00002
NM_000301.5(PLG):c.2263A>G (p.Ser755Gly) rs1778416234 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.1329C>A (p.Ser443Arg) rs756670030
NM_000301.5(PLG):c.1657G>A (p.Asp553Asn) rs182937977
NM_000301.5(PLG):c.185+14C>A rs369616302
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.745G>A (p.Asp249Asn) rs532027310
NM_000301.5(PLG):c.814A>G (p.Thr272Ala) rs754598185
NM_000301.5(PLG):c.848A>G (p.Tyr283Cys) rs2115163630
NM_000301.5(PLG):c.950+4A>G rs1582937995

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