ClinVar Miner

List of variants in gene GPC3 studied for abdominal and pelvic region disorder

Included ClinVar conditions (956):
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Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP
GRCh37/hg19 Xq26.2(chrX:132834006-132986815)
NC_000023.10:g.(?_132795738)_(133119496_?)del
NC_000023.10:g.(?_132795758)_(132888203_?)del
NC_000023.10:g.(?_132887489)_(132888223_?)dup
NC_000023.10:g.(?_132887499)_(132888213_?)dup
NC_000023.10:g.(?_133087067)_(133119486_?)dup
NM_001164617.2(GPC3):c.1127_1129AAC[1] (p.Gln377del) rs1569416621
NM_001164617.2(GPC3):c.1228C>T (p.Arg410Ter) rs122453121
NM_001164617.2(GPC3):c.1230_1232AAG[1] (p.Arg412del) rs1556271258
NM_001164617.2(GPC3):c.1563C>A (p.Cys521Ter) rs753210097
NM_001164617.2(GPC3):c.629_654delinsCTTGCA (p.Asn210fs) rs1556297749
NM_001164619.2(GPC3):c.175+32082_175+32094del rs869025181
NM_004484.3(GPC3):c.(1293_1293)-76_(1413_1413)del
NM_004484.3(GPC3):c.-197-?_*379+?dup
NM_004484.3(GPC3):c.100A>G (p.Thr34Ala)
NM_004484.3(GPC3):c.1019A>G (p.Lys340Arg)
NM_004484.3(GPC3):c.1021C>G (p.Leu341Val) rs1569426033
NM_004484.3(GPC3):c.1032+10_1032+11delinsTT rs1556297529
NM_004484.3(GPC3):c.1061A>G (p.Gln354Arg)
NM_004484.3(GPC3):c.1064G>A (p.Arg355His) rs1556271627
NM_004484.3(GPC3):c.1078G>T (p.Ala360Ser)
NM_004484.3(GPC3):c.1085A>G (p.Tyr362Cys) rs878854705
NM_004484.3(GPC3):c.1087C>T (p.Pro363Ser) rs922588870
NM_004484.3(GPC3):c.1103T>C (p.Ile368Thr) rs1569416581
NM_004484.3(GPC3):c.1139A>G (p.His380Arg) rs1201293547
NM_004484.3(GPC3):c.113T>A (p.Val38Asp)
NM_004484.3(GPC3):c.113T>C (p.Val38Ala)
NM_004484.3(GPC3):c.1166+3G>A
NM_004484.3(GPC3):c.1181A>G (p.Lys394Arg) rs764609423
NM_004484.3(GPC3):c.1212T>C (p.Ala404=) rs1556263726
NM_004484.3(GPC3):c.1259C>G (p.Thr420Ser) rs377381100
NM_004484.3(GPC3):c.1264T>A (p.Cys422Ser) rs1569415183
NM_004484.3(GPC3):c.126C>A (p.Phe42Leu)
NM_004484.3(GPC3):c.1292+1G>T rs869025182
NM_004484.3(GPC3):c.1306G>T (p.Ala436Ser) rs1556233681
NM_004484.3(GPC3):c.1307del (p.Ala436fs) rs1569408743
NM_004484.3(GPC3):c.1330C>G (p.Gln444Glu) rs1556233629
NM_004484.3(GPC3):c.1359G>C (p.Lys453Asn) rs148219256
NM_004484.3(GPC3):c.1409A>G (p.Asn470Ser) rs1556233454
NM_004484.3(GPC3):c.1414_1573del160 (p.Leu472Asnfs)
NM_004484.3(GPC3):c.1471G>T (p.Glu491Ter) rs1569392947
NM_004484.3(GPC3):c.1500T>C (p.Asp500=) rs2314298
NM_004484.3(GPC3):c.1516A>G (p.Ile506Val)
NM_004484.3(GPC3):c.1528G>A (p.Gly510Ser) rs1556159260
NM_004484.3(GPC3):c.1534G>A (p.Gly512Arg) rs1556159239
NM_004484.3(GPC3):c.1561C>T (p.Arg521Cys) rs759543703
NM_004484.3(GPC3):c.1568T>C (p.Leu523Pro) rs1015207544
NM_004484.3(GPC3):c.1574-?_*379+?del
NM_004484.3(GPC3):c.1594G>T (p.Val532Leu)
NM_004484.3(GPC3):c.1604C>G (p.Ala535Gly)
NM_004484.3(GPC3):c.1626A>G (p.Ala542=) rs61754631
NM_004484.3(GPC3):c.1666G>A (p.Gly556Arg) rs267606850
NM_004484.3(GPC3):c.1681C>T (p.Pro561Ser) rs1569375662
NM_004484.3(GPC3):c.1686G>C (p.Leu562=) rs1556111740
NM_004484.3(GPC3):c.1692del (p.Leu565fs) rs886039908
NM_004484.3(GPC3):c.1705G>A (p.Ala569Thr) rs122453120
NM_004484.3(GPC3):c.1718T>C (p.Val573Ala)
NM_004484.3(GPC3):c.1729T>C (p.Phe577Leu)
NM_004484.3(GPC3):c.1737G>A (p.Val579=) rs1556111517
NM_004484.3(GPC3):c.1738C>T (p.His580Tyr) rs1060502173
NM_004484.3(GPC3):c.220T>G (p.Ser74Ala) rs1556359373
NM_004484.3(GPC3):c.257G>A (p.Arg86Gln) rs1158430569
NM_004484.3(GPC3):c.265A>G (p.Met89Val) rs1569458698
NM_004484.3(GPC3):c.305T>C (p.Phe102Ser) rs1569458691
NM_004484.3(GPC3):c.326C>A (p.Ala109Glu) rs761660909
NM_004484.3(GPC3):c.337+1G>A rs869025183
NM_004484.3(GPC3):c.338-4A>T rs1490568896
NM_004484.3(GPC3):c.338-5del rs370737647
NM_004484.3(GPC3):c.351T>G (p.Ile117Met)
NM_004484.3(GPC3):c.355G>T (p.Val119Phe) rs1060502171
NM_004484.3(GPC3):c.361C>T (p.His121Tyr) rs122453119
NM_004484.3(GPC3):c.369G>C (p.Lys123Asn)
NM_004484.3(GPC3):c.384C>A (p.Ala128=) rs761541528
NM_004484.3(GPC3):c.385A>T (p.Met129Leu)
NM_004484.3(GPC3):c.391A>G (p.Lys131Glu) rs1295553120
NM_004484.3(GPC3):c.397A>C (p.Asn133His)
NM_004484.3(GPC3):c.430T>A (p.Phe144Ile) rs1404574866
NM_004484.3(GPC3):c.491A>G (p.Asp164Gly) rs1569426363
NM_004484.3(GPC3):c.496A>G (p.Met166Val) rs1556297827
NM_004484.3(GPC3):c.520C>G (p.Leu174Val)
NM_004484.3(GPC3):c.526C>G (p.Pro176Ala) rs748458384
NM_004484.3(GPC3):c.549G>T (p.Met183Ile) rs769104574
NM_004484.3(GPC3):c.565G>T (p.Asp189Tyr)
NM_004484.3(GPC3):c.571G>A (p.Ala191Thr)
NM_004484.3(GPC3):c.595C>T (p.Arg199Ter) rs104894855
NM_004484.3(GPC3):c.602C>A (p.Ala201Glu) rs201344338
NM_004484.3(GPC3):c.62C>A (p.Pro21Gln) rs745984441
NM_004484.3(GPC3):c.646A>G (p.Met216Val) rs1556297755
NM_004484.3(GPC3):c.693G>A (p.Gln231=)
NM_004484.3(GPC3):c.71C>T (p.Ala24Val) rs1569462740
NM_004484.3(GPC3):c.722A>G (p.Asn241Ser)
NM_004484.3(GPC3):c.733C>A (p.His245Asn)
NM_004484.3(GPC3):c.737_738delinsCT (p.Leu246Pro)
NM_004484.3(GPC3):c.76C>T (p.Pro26Ser) rs1569462736
NM_004484.3(GPC3):c.788C>G (p.Ser263Cys) rs1060502170
NM_004484.3(GPC3):c.80C>T (p.Pro27Leu) rs1556367809
NM_004484.3(GPC3):c.832T>C (p.Cys278Arg) rs1556297671
NM_004484.3(GPC3):c.838G>A (p.Val280Met) rs1556297668
NM_004484.3(GPC3):c.856A>G (p.Met286Val) rs763327506
NM_004484.3(GPC3):c.886T>A (p.Trp296Arg) rs104894854
NM_004484.3(GPC3):c.913G>A (p.Glu305Lys) rs903266102
NM_004484.3(GPC3):c.919G>C (p.Val307Leu) rs780001214
NM_004484.3(GPC3):c.92C>T (p.Pro31Leu)
NM_004484.3(GPC3):c.941A>G (p.Tyr314Cys) rs1569426081
NM_004484.3(GPC3):c.945C>G (p.Asp315Glu) rs1027587308
NM_004484.3(GPC3):c.959T>C (p.Leu320Pro)
NM_004484.3(GPC3):c.974C>A (p.Ser325Ter) rs1569426054
NM_004484.3(GPC3):c.977C>T (p.Thr326Ile)
NM_004484.3(GPC3):c.983A>G (p.His328Arg) rs761141186
NM_004484.3(GPC3):c.986A>G (p.Asp329Gly) rs1199305584
NM_004484.4(GPC3):c.513dup (p.Asp172Ter)
NM_004484.4(GPC3):c.80dup (p.Pro28fs)

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