ClinVar Miner

List of variants in gene GPC3 studied for Simpson-Golabi-Behmel syndrome type 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_004484.4(GPC3):c.1500T>C (p.Asp500=) rs2314298 0.06746
NM_004484.4(GPC3):c.1626A>G (p.Ala542=) rs61754631 0.05751
NM_004484.4(GPC3):c.204G>A (p.Lys68=) rs61754632 0.01163
NM_004484.4(GPC3):c.1285G>A (p.Val429Met) rs11539789 0.00333
NM_004484.4(GPC3):c.1032+9C>T rs200782847 0.00069
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.516C>T (p.Asp172=) rs369607601 0.00010
NM_004484.4(GPC3):c.358C>T (p.Arg120Cys) rs587778392 0.00006
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.115C>T (p.Arg39Cys) rs757475450 0.00002
NM_004484.4(GPC3):c.175+12T>G rs765877667 0.00002
NM_004484.4(GPC3):c.485A>G (p.Asn162Ser) rs780431445 0.00002
NM_004484.4(GPC3):c.1070A>G (p.Tyr357Cys) rs757269723 0.00001
NM_004484.4(GPC3):c.1167-1G>A rs2071074944 0.00001
NM_004484.4(GPC3):c.118T>C (p.Ser40Pro) rs1238291553 0.00001
NM_004484.4(GPC3):c.1277A>G (p.Gln426Arg) rs749874149 0.00001
NM_004484.4(GPC3):c.1292+6C>T rs1207247416 0.00001
NM_004484.4(GPC3):c.1296C>T (p.Tyr432=) rs946461494 0.00001
NM_004484.4(GPC3):c.1568T>C (p.Leu523Pro) rs1015207544 0.00001
NM_004484.4(GPC3):c.1698C>T (p.Thr566=) rs201310379 0.00001
NM_004484.4(GPC3):c.450A>G (p.Thr150=) rs1569426383 0.00001
NM_004484.4(GPC3):c.696T>C (p.Ala232=) rs2071695506 0.00001
NM_004484.4(GPC3):c.797A>G (p.Gln266Arg) rs765072095 0.00001
NM_004484.4(GPC3):c.865G>A (p.Val289Met) rs1456458902 0.00001
NM_004484.4(GPC3):c.918T>C (p.Leu306=) rs753655328 0.00001
GRCh37/hg19 Xq26.2(chrX:132703748-132794615)
GRCh37/hg19 Xq26.2(chrX:132834006-132986815)
NC_000023.10:g.(133030929_133031380)_(133079087_133079463)delins(118528009_118528409)_(118674690_118675082)
NM_004484.3(GPC3):c.(1293_1293)-76_(1413_1413)del
NM_004484.3(GPC3):c.1414_1573del160 (p.Leu472Asnfs)
NM_004484.4(GPC3):c.-1G>C rs2076564315
NM_004484.4(GPC3):c.1051C>T (p.His351Tyr) rs2071153064
NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter) rs122453121
NM_004484.4(GPC3):c.1292+1G>T rs869025182
NM_004484.4(GPC3):c.1293-10A>G
NM_004484.4(GPC3):c.140C>T (p.Pro47Leu) rs2076562505
NM_004484.4(GPC3):c.1413+1G>C rs2124401754
NM_004484.4(GPC3):c.1454A>C (p.Asp485Ala) rs2069918325
NM_004484.4(GPC3):c.1494C>A (p.Cys498Ter) rs753210097
NM_004484.4(GPC3):c.1562G>A (p.Arg521His) rs2069915768
NM_004484.4(GPC3):c.1640A>G (p.Asn547Ser) rs2069289549
NM_004484.4(GPC3):c.1645A>G (p.Ile549Val) rs2124257541
NM_004484.4(GPC3):c.1666G>A (p.Gly556Arg) rs267606850
NM_004484.4(GPC3):c.1692del (p.Leu565fs) rs886039908
NM_004484.4(GPC3):c.1736_1737del (p.Val579fs)
NM_004484.4(GPC3):c.175+1G>T rs886039489
NM_004484.4(GPC3):c.190del (p.Val64fs)
NM_004484.4(GPC3):c.194_206del (p.Cys65fs) rs869025181
NM_004484.4(GPC3):c.271del (p.Gln91fs) rs2124634791
NM_004484.4(GPC3):c.280del (p.Gln94fs)
NM_004484.4(GPC3):c.337+1G>A rs869025183
NM_004484.4(GPC3):c.338-20dup rs370737647
NM_004484.4(GPC3):c.338-5del rs370737647
NM_004484.4(GPC3):c.338-6_338-5dup rs370737647
NM_004484.4(GPC3):c.338-7_338-5del rs370737647
NM_004484.4(GPC3):c.467T>A (p.Ile156Asn) rs2124480768
NM_004484.4(GPC3):c.505G>T (p.Glu169Ter) rs2071700502
NM_004484.4(GPC3):c.553C>T (p.Pro185Ser)
NM_004484.4(GPC3):c.595C>T (p.Arg199Ter) rs104894855
NM_004484.4(GPC3):c.695C>A (p.Ala232Asp) rs1206002281
NM_004484.4(GPC3):c.886T>A (p.Trp296Arg) rs104894854
NM_004484.4(GPC3):c.913G>A (p.Glu305Lys) rs903266102
NM_004484.4(GPC3):c.974C>A (p.Ser325Ter) rs1569426054

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