ClinVar Miner

List of variants in gene GPC3 studied for not provided

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Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_004484.4(GPC3):c.1033-4410C>T rs7052290 0.35709
NM_004484.4(GPC3):c.1033-256G>A rs7050708 0.07285
NM_004484.4(GPC3):c.1033-335A>G rs7055292 0.07279
NM_004484.4(GPC3):c.1500T>C (p.Asp500=) rs2314298 0.06746
NM_004484.4(GPC3):c.1167-165A>T rs1997640 0.06378
NM_004484.4(GPC3):c.1626A>G (p.Ala542=) rs61754631 0.05751
NM_004484.4(GPC3):c.1032+211T>C rs73564930 0.05187
NM_004484.4(GPC3):c.1166+268A>G rs73559378 0.04368
NM_004484.4(GPC3):c.337+248G>A rs3747441 0.03682
NM_004484.4(GPC3):c.1413+86del rs372973122 0.03103
NM_004484.4(GPC3):c.1033-4547G>A rs111509388 0.01813
NM_004484.4(GPC3):c.1414-120A>T rs192870946 0.01776
NM_004484.4(GPC3):c.1033-4234G>A rs191390195 0.01627
NM_004484.4(GPC3):c.1293-207G>A rs182954841 0.01603
NM_004484.4(GPC3):c.1033-4088C>G rs141582903 0.01249
NM_004484.4(GPC3):c.204G>A (p.Lys68=) rs61754632 0.01163
NM_004484.4(GPC3):c.1033-4043T>C rs188073049 0.00921
NM_004484.4(GPC3):c.1032+115T>G rs147506479 0.00666
NM_004484.4(GPC3):c.1293-213C>T rs148100769 0.00625
NM_004484.4(GPC3):c.1033-4443T>C rs189761039 0.00589
NM_004484.4(GPC3):c.1167-164A>T rs191635772 0.00569
NM_004484.4(GPC3):c.175+110A>T rs771077120 0.00489
NM_004484.4(GPC3):c.175+111G>T rs760902926 0.00489
NC_000023.11:g.133985596G>C rs780953622 0.00435
NM_004484.4(GPC3):c.1285G>A (p.Val429Met) rs11539789 0.00333
NM_004484.4(GPC3):c.1167-8T>C rs182950534 0.00303
NM_004484.4(GPC3):c.826G>A (p.Gly276Ser) rs141100113 0.00082
NM_004484.4(GPC3):c.1032+9C>T rs200782847 0.00069
NM_004484.4(GPC3):c.995A>G (p.Gln332Arg) rs78696048 0.00065
NM_004484.4(GPC3):c.359G>A (p.Arg120His) rs148021273 0.00052
NM_004484.4(GPC3):c.660C>T (p.Ser220=) rs138450923 0.00050
NM_004484.4(GPC3):c.1254C>T (p.Asn418=) rs150766741 0.00032
NM_004484.4(GPC3):c.876T>C (p.Ile292=) rs61754633 0.00024
NM_004484.4(GPC3):c.889A>G (p.Arg297Gly) rs148951753 0.00019
NM_004484.4(GPC3):c.172C>T (p.Pro58Ser) rs147231796 0.00014
NM_004484.4(GPC3):c.676A>G (p.Thr226Ala) rs145141525 0.00014
NM_004484.4(GPC3):c.1631C>T (p.Pro544Leu) rs375606908 0.00011
NM_004484.4(GPC3):c.1232G>T (p.Ser411Ile) rs139206747 0.00010
NM_004484.4(GPC3):c.358C>T (p.Arg120Cys) rs587778392 0.00006
NM_004484.4(GPC3):c.1078G>T (p.Ala360Ser) rs779187915 0.00005
NM_004484.4(GPC3):c.168C>G (p.Pro56=) rs188592483 0.00005
NM_004484.4(GPC3):c.1263T>G (p.Leu421=) rs1474137107 0.00004
NM_004484.4(GPC3):c.648G>C (p.Met216Ile) rs752516966 0.00004
NM_004484.4(GPC3):c.972T>C (p.Phe324=) rs183678432 0.00004
NM_004484.4(GPC3):c.1398G>A (p.Leu466=) rs745968470 0.00003
NM_004484.4(GPC3):c.365C>T (p.Ala122Val) rs779679730 0.00003
NM_004484.4(GPC3):c.607C>T (p.Arg203Cys) rs756480292 0.00003
NM_004484.4(GPC3):c.1002C>T (p.Val334=) rs747775536 0.00002
NM_004484.4(GPC3):c.1114G>A (p.Val372Ile) rs140756498 0.00002
NM_004484.4(GPC3):c.1359G>C (p.Lys453Asn) rs148219256 0.00002
NM_004484.4(GPC3):c.485A>G (p.Asn162Ser) rs780431445 0.00002
NM_004484.4(GPC3):c.946A>G (p.Met316Val) rs764148728 0.00002
NM_004484.4(GPC3):c.1033-4249C>A rs76180513 0.00001
NM_004484.4(GPC3):c.1094A>G (p.Asp365Gly) rs1174291561 0.00001
NM_004484.4(GPC3):c.1248G>A (p.Ala416=) rs201677091 0.00001
NM_004484.4(GPC3):c.1437C>G (p.Pro479=) rs1337307928 0.00001
NM_004484.4(GPC3):c.171G>A (p.Val57=) rs398124166 0.00001
NM_004484.4(GPC3):c.392A>G (p.Lys131Arg) rs751302717 0.00001
NM_004484.4(GPC3):c.421G>A (p.Ala141Thr) rs1360346581 0.00001
NM_004484.4(GPC3):c.430T>A (p.Phe144Ile) rs1404574866 0.00001
NM_004484.4(GPC3):c.802C>T (p.Leu268=) rs754903885 0.00001
NM_004484.4(GPC3):c.844A>G (p.Met282Val) rs151082475 0.00001
GRCh37/hg19 Xq26.2(chrX:132554646-132787377)x0
GRCh37/hg19 Xq26.2(chrX:132879202-132956033)x0
GRCh37/hg19 Xq26.2(chrX:132887509-132888204)x0
GRCh37/hg19 Xq26.2(chrX:133002381-133223522)x3
GRCh37/hg19 Xq26.2(chrX:133068897-133292237)x3
NM_004484.4(GPC3):c.*226GAAA[1] rs71736291
NM_004484.4(GPC3):c.1004A>C (p.Gln335Pro) rs2071687961
NM_004484.4(GPC3):c.1029C>T (p.Thr343=) rs890143711
NM_004484.4(GPC3):c.1033-3893TTC[3] rs199930274
NM_004484.4(GPC3):c.1033-3940del rs770780483
NM_004484.4(GPC3):c.1033-4218A>G rs774209091
NM_004484.4(GPC3):c.1033-4250del rs372010975
NM_004484.4(GPC3):c.1033-4251_1033-4250del rs372010975
NM_004484.4(GPC3):c.1033-4262dup rs372010975
NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter) rs122453121
NM_004484.4(GPC3):c.1177C>T (p.Gln393Ter) rs1556263859
NM_004484.4(GPC3):c.1269G>C (p.Trp423Cys)
NM_004484.4(GPC3):c.1284C>T (p.Leu428=) rs2124430679
NM_004484.4(GPC3):c.1293-165dup rs369016271
NM_004484.4(GPC3):c.1305G>A (p.Lys435=) rs893970724
NM_004484.4(GPC3):c.1328del (p.Asn443fs) rs2070729548
NM_004484.4(GPC3):c.133C>T (p.Leu45=)
NM_004484.4(GPC3):c.1413+88G>A rs12014669
NM_004484.4(GPC3):c.1426A>T (p.Met476Leu) rs200265913
NM_004484.4(GPC3):c.1437del (p.Gly481fs) rs886039473
NM_004484.4(GPC3):c.1453G>T (p.Asp485Tyr)
NM_004484.4(GPC3):c.1528G>A (p.Gly510Ser) rs1556159260
NM_004484.4(GPC3):c.1574-7_1574-4del rs751413609
NM_004484.4(GPC3):c.1578G>A (p.Leu526=)
NM_004484.4(GPC3):c.1666G>A (p.Gly556Arg) rs267606850
NM_004484.4(GPC3):c.1666G>C (p.Gly556Arg) rs267606850
NM_004484.4(GPC3):c.1685T>C (p.Leu562Pro) rs2069288228
NM_004484.4(GPC3):c.1709T>C (p.Ile570Thr) rs2124257318
NM_004484.4(GPC3):c.1724T>G (p.Phe575Cys) rs981077333
NM_004484.4(GPC3):c.1742G>T (p.Ter581Leu)
NM_004484.4(GPC3):c.175+1G>A rs886039489
NM_004484.4(GPC3):c.175+1G>T rs886039489
NM_004484.4(GPC3):c.175G>T (p.Gly59Ter) rs1057517739
NM_004484.4(GPC3):c.181G>C (p.Asp61His) rs2124634901
NM_004484.4(GPC3):c.19A>C (p.Thr7Pro) rs773144223
NM_004484.4(GPC3):c.213_214del (p.Cys72fs) rs886039384
NM_004484.4(GPC3):c.235G>T (p.Glu79Ter)
NM_004484.4(GPC3):c.249A>G (p.Leu83=) rs755510528
NM_004484.4(GPC3):c.256C>T (p.Arg86Ter) rs2076400520
NM_004484.4(GPC3):c.281A>C (p.Gln94Pro)
NM_004484.4(GPC3):c.337+2T>A
NM_004484.4(GPC3):c.337+7297G>T
NM_004484.4(GPC3):c.338-1G>T rs1569426445
NM_004484.4(GPC3):c.338-5del rs370737647
NM_004484.4(GPC3):c.338-6_338-5del rs370737647
NM_004484.4(GPC3):c.338-7_338-5del rs370737647
NM_004484.4(GPC3):c.43C>A (p.Leu15Met) rs1174879539
NM_004484.4(GPC3):c.493G>A (p.Asp165Asn) rs2124480689
NM_004484.4(GPC3):c.545T>C (p.Leu182Pro)
NM_004484.4(GPC3):c.565G>T (p.Asp189Tyr) rs900143355
NM_004484.4(GPC3):c.595C>T (p.Arg199Ter) rs104894855
NM_004484.4(GPC3):c.607C>G (p.Arg203Gly) rs756480292
NM_004484.4(GPC3):c.62C>G (p.Pro21Arg) rs745984441
NM_004484.4(GPC3):c.645dup (p.Met216fs)
NM_004484.4(GPC3):c.687C>T (p.Phe229=) rs2124480310
NM_004484.4(GPC3):c.706G>T (p.Gly236Ter) rs2071695360
NM_004484.4(GPC3):c.738G>T (p.Leu246=)
NM_004484.4(GPC3):c.755G>A (p.Cys252Tyr)
NM_004484.4(GPC3):c.755G>C (p.Cys252Ser) rs2071694353
NM_004484.4(GPC3):c.760C>T (p.Arg254Ter) rs752194694
NM_004484.4(GPC3):c.79CCG[6] (p.Pro31dup) rs749104500
NM_004484.4(GPC3):c.821G>C (p.Cys274Ser) rs2124480119
NM_004484.4(GPC3):c.826G>T (p.Gly276Cys) rs141100113
NM_004484.4(GPC3):c.839T>A (p.Val280Glu) rs764111452
NM_004484.4(GPC3):c.854G>A (p.Cys285Tyr) rs2124480056
NM_004484.4(GPC3):c.871G>A (p.Glu291Lys) rs12833276
NM_004484.4(GPC3):c.892G>T (p.Glu298Ter) rs2124479949
NM_004484.4(GPC3):c.935G>A (p.Arg312Lys)
NM_004484.4(GPC3):c.986A>G (p.Asp329Gly) rs1199305584

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