ClinVar Miner

List of variants in gene PLG studied for blood coagulation disease

Included ClinVar conditions (153):
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Gene type:
ClinVar version:
Total variants: 149
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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.598A>G (p.Thr200Ala) rs149145958 0.00072
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.2085C>A (p.Asp695Glu) rs1394466422 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.988A>G (p.Lys330Glu) rs889957249 0.00001
NM_000301.5(PLG):c.1023A>T (p.Gln341His)
NM_000301.5(PLG):c.103A>G (p.Ser35Gly)
NM_000301.5(PLG):c.1075A>G (p.Thr359Ala)
NM_000301.5(PLG):c.1107G>T (p.Glu369Asp)
NM_000301.5(PLG):c.1157G>A (p.Arg386Gln)
NM_000301.5(PLG):c.1217C>A (p.Pro406Gln) rs1582940083
NM_000301.5(PLG):c.1229A>G (p.Gln410Arg)
NM_000301.5(PLG):c.130G>A (p.Gly44Arg)
NM_000301.5(PLG):c.1329C>A (p.Ser443Arg) rs756670030
NM_000301.5(PLG):c.1330G>A (p.Val444Ile)
NM_000301.5(PLG):c.1334G>T (p.Arg445Met)
NM_000301.5(PLG):c.1363T>C (p.Ser455Pro)
NM_000301.5(PLG):c.1366G>C (p.Gly456Arg)
NM_000301.5(PLG):c.137T>C (p.Ile46Thr)
NM_000301.5(PLG):c.1385T>A (p.Val462Glu)
NM_000301.5(PLG):c.1385T>C (p.Val462Ala)
NM_000301.5(PLG):c.1432G>A (p.Glu478Lys)
NM_000301.5(PLG):c.1434A>C (p.Glu478Asp)
NM_000301.5(PLG):c.1435G>T (p.Glu479Ter) rs121918032
NM_000301.5(PLG):c.1442G>A (p.Cys481Tyr)
NM_000301.5(PLG):c.1445T>C (p.Met482Thr)
NM_000301.5(PLG):c.1458G>T (p.Gly486=)
NM_000301.5(PLG):c.1480_1481delinsAA (p.Ala494Lys)
NM_000301.5(PLG):c.1481C>A (p.Ala494Glu)
NM_000301.5(PLG):c.1520C>T (p.Ala507Val)
NM_000301.5(PLG):c.1540A>G (p.Ser514Gly)
NM_000301.5(PLG):c.1550C>T (p.Thr517Ile)
NM_000301.5(PLG):c.1564C>T (p.Pro522Ser)
NM_000301.5(PLG):c.1568G>A (p.Arg523Gln)
NM_000301.5(PLG):c.1573G>A (p.Gly525Ser)
NM_000301.5(PLG):c.160G>A (p.Glu54Lys)
NM_000301.5(PLG):c.162GGA[1] (p.Glu55del)
NM_000301.5(PLG):c.1646G>T (p.Arg549Ile)
NM_000301.5(PLG):c.1657G>A (p.Asp553Asn) rs182937977
NM_000301.5(PLG):c.1745T>C (p.Val582Ala)
NM_000301.5(PLG):c.1771T>C (p.Ser591Pro) rs121918029
NM_000301.5(PLG):c.177C>T (p.Phe59=)
NM_000301.5(PLG):c.1787T>G (p.Val596Gly)
NM_000301.5(PLG):c.1802+3A>G
NM_000301.5(PLG):c.185+14C>A rs369616302
NM_000301.5(PLG):c.187G>T (p.Ala63Ser)
NM_000301.5(PLG):c.1912G>A (p.Gly638Ser)
NM_000301.5(PLG):c.1949A>T (p.Gln650Leu)
NM_000301.5(PLG):c.1955T>G (p.Ile652Arg)
NM_000301.5(PLG):c.1966A>T (p.Arg656Trp)
NM_000301.5(PLG):c.1987C>T (p.Arg663Ter)
NM_000301.5(PLG):c.19G>T (p.Val7Phe)
NM_000301.5(PLG):c.2019-1G>A rs2115181746
NM_000301.5(PLG):c.2024C>T (p.Ala675Val)
NM_000301.5(PLG):c.2030T>C (p.Ile677Thr)
NM_000301.5(PLG):c.2063C>T (p.Ser688Phe)
NM_000301.5(PLG):c.2086C>G (p.Arg696Gly)
NM_000301.5(PLG):c.2120C>T (p.Thr707Ile)
NM_000301.5(PLG):c.2125+1del rs606231210
NM_000301.5(PLG):c.2192G>A (p.Arg731His)
NM_000301.5(PLG):c.2227G>A (p.Glu743Lys)
NM_000301.5(PLG):c.2278A>G (p.Ser760Gly) rs1582955692
NM_000301.5(PLG):c.2302G>C (p.Glu768Gln)
NM_000301.5(PLG):c.2356C>T (p.Arg786Cys)
NM_000301.5(PLG):c.239G>A (p.Arg80Lys)
NM_000301.5(PLG):c.2413G>A (p.Gly805Arg)
NM_000301.5(PLG):c.2416G>A (p.Val806Met)
NM_000301.5(PLG):c.264G>A (p.Met88Ile)
NM_000301.5(PLG):c.266G>C (p.Arg89Thr) rs143079629
NM_000301.5(PLG):c.28C>T (p.Leu10Phe)
NM_000301.5(PLG):c.292+1G>C
NM_000301.5(PLG):c.296A>T (p.Tyr99Phe)
NM_000301.5(PLG):c.313A>G (p.Thr105Ala)
NM_000301.5(PLG):c.385T>C (p.Ser129Pro)
NM_000301.5(PLG):c.407+8A>G
NM_000301.5(PLG):c.435G>T (p.Glu145Asp)
NM_000301.5(PLG):c.466G>A (p.Asp156Asn) rs756533019
NM_000301.5(PLG):c.468C>A (p.Asp156Glu)
NM_000301.5(PLG):c.493T>C (p.Tyr165His)
NM_000301.5(PLG):c.50-5T>G
NM_000301.5(PLG):c.538G>A (p.Glu180Lys)
NM_000301.5(PLG):c.539A>C (p.Glu180Ala)
NM_000301.5(PLG):c.572A>G (p.Glu191Gly)
NM_000301.5(PLG):c.59A>C (p.Glu20Ala)
NM_000301.5(PLG):c.653G>T (p.Gly218Val)
NM_000301.5(PLG):c.662C>T (p.Pro221Leu)
NM_000301.5(PLG):c.669-8C>A
NM_000301.5(PLG):c.674C>G (p.Pro225Arg)
NM_000301.5(PLG):c.677A>T (p.Asn226Ile)
NM_000301.5(PLG):c.677del (p.Asn226fs)
NM_000301.5(PLG):c.67_68delinsAT (p.Asp23Ile)
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.714T>C (p.Asp238=)
NM_000301.5(PLG):c.743C>T (p.Thr248Ile)
NM_000301.5(PLG):c.745G>A (p.Asp249Asn) rs532027310
NM_000301.5(PLG):c.747C>G (p.Asp249Glu)
NM_000301.5(PLG):c.749C>T (p.Pro250Leu)
NM_000301.5(PLG):c.772G>A (p.Asp258Asn)
NM_000301.5(PLG):c.781C>T (p.Arg261Cys)
NM_000301.5(PLG):c.788-11G>T
NM_000301.5(PLG):c.78G>C (p.Val26=)
NM_000301.5(PLG):c.814A>G (p.Thr272Ala) rs754598185
NM_000301.5(PLG):c.833G>C (p.Gly278Ala)
NM_000301.5(PLG):c.848A>G (p.Tyr283Cys) rs2115163630
NM_000301.5(PLG):c.857A>G (p.Asn286Ser)
NM_000301.5(PLG):c.884C>A (p.Thr295Asn)
NM_000301.5(PLG):c.884C>T (p.Thr295Ile)
NM_000301.5(PLG):c.886T>G (p.Cys296Gly) rs1777777927
NM_000301.5(PLG):c.910C>G (p.Pro304Ala)
NM_000301.5(PLG):c.944C>T (p.Pro315Leu)
NM_000301.5(PLG):c.948C>A (p.Cys316Ter)
NM_000301.5(PLG):c.950+4A>G rs1582937995
NM_000301.5(PLG):c.974G>T (p.Arg325Leu)
NM_000301.5(PLG):c.992G>C (p.Arg331Thr)
NM_000301.5(PLG):c.99G>C (p.Leu33=)

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