ClinVar Miner

List of variants in gene PLG studied for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000301.5(PLG):c.1878-17G>A rs2859879 0.68619
NM_000301.5(PLG):c.2286T>G (p.Gly762=) rs11060 0.55831
NM_000301.5(PLG):c.*45A>G rs6690 0.54884
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 0.34390
NM_000301.5(PLG):c.1380T>A (p.Ser460Arg) rs116573785 0.01344
NM_000301.5(PLG):c.1567C>T (p.Arg523Trp) rs4252129 0.00772
NM_000301.5(PLG):c.1281G>A (p.Arg427=) rs149909079 0.00373
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_000301.5(PLG):c.1431C>T (p.Ser477=) rs4699 0.00248
NM_000301.5(PLG):c.1962G>T (p.Val654=) rs4252196 0.00147
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.36A>G (p.Leu12=) rs371469289 0.00014
NM_000301.5(PLG):c.1468C>A (p.Arg490=) rs367707054 0.00010
NM_000301.5(PLG):c.1997T>C (p.Ile666Thr) rs764647453 0.00010
NM_000301.5(PLG):c.2087G>A (p.Arg696Gln) rs147930532 0.00009
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.1722G>A (p.Pro574=) rs146030266 0.00006
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.1120G>T (p.Val374Phe) rs121918028 0.00001
NM_000301.5(PLG):c.2251G>A (p.Gly751Arg) rs121918033 0.00001
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.1435G>T (p.Glu479Ter) rs121918032
NM_000301.5(PLG):c.1657G>A (p.Asp553Asn) rs182937977
NM_000301.5(PLG):c.1771T>C (p.Ser591Pro) rs121918029
NM_000301.5(PLG):c.185+14C>A rs369616302
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.687GAA[2] (p.Lys231del) rs121918034
NM_000301.5(PLG):c.704G>A (p.Arg235His) rs121918030
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.886T>G (p.Cys296Gly) rs1777777927
NM_000301.5(PLG):c.950+4A>G rs1582937995

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