ClinVar Miner

List of variants in gene GPC3 reported by Ambry Genetics

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Gene type:
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Total variants: 41
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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.826G>A (p.Gly276Ser) rs141100113 0.00082
NM_004484.4(GPC3):c.995A>G (p.Gln332Arg) rs78696048 0.00065
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.1232G>T (p.Ser411Ile) rs139206747 0.00010
NM_004484.4(GPC3):c.358C>T (p.Arg120Cys) rs587778392 0.00006
NM_004484.4(GPC3):c.168C>G (p.Pro56=) rs188592483 0.00005
NM_004484.4(GPC3):c.648G>C (p.Met216Ile) rs752516966 0.00004
NM_004484.4(GPC3):c.608G>A (p.Arg203His) rs375160737 0.00003
NM_004484.4(GPC3):c.485A>G (p.Asn162Ser) rs780431445 0.00002
NM_004484.4(GPC3):c.1162A>G (p.Arg388Gly) rs199812705 0.00001
NM_004484.4(GPC3):c.1181A>G (p.Lys394Arg) rs764609423 0.00001
NM_004484.4(GPC3):c.1248G>A (p.Ala416=) rs201677091 0.00001
NM_004484.4(GPC3):c.1277A>G (p.Gln426Arg) rs749874149 0.00001
NM_004484.4(GPC3):c.1550A>G (p.Lys517Arg) rs758464784 0.00001
NM_004484.4(GPC3):c.1698C>T (p.Thr566=) rs201310379 0.00001
NM_004484.4(GPC3):c.430T>A (p.Phe144Ile) rs1404574866 0.00001
NM_004484.4(GPC3):c.543G>A (p.Gln181=) rs1266410074 0.00001
NM_004484.4(GPC3):c.797A>G (p.Gln266Arg) rs765072095 0.00001
NM_004484.4(GPC3):c.1166+1G>A
NM_004484.4(GPC3):c.1190C>T (p.Ser397Phe) rs2071074547
NM_004484.4(GPC3):c.1264T>A (p.Cys422Ser) rs1569415183
NM_004484.4(GPC3):c.1574-7_1574-4del rs751413609
NM_004484.4(GPC3):c.1604C>G (p.Ala535Gly) rs750138489
NM_004484.4(GPC3):c.1666G>A (p.Gly556Arg) rs267606850
NM_004484.4(GPC3):c.191T>C (p.Val64Ala)
NM_004484.4(GPC3):c.192A>G (p.Val64=) rs2076401014
NM_004484.4(GPC3):c.256C>T (p.Arg86Ter) rs2076400520
NM_004484.4(GPC3):c.265A>G (p.Met89Val) rs1569458698
NM_004484.4(GPC3):c.338-5del rs370737647
NM_004484.4(GPC3):c.338-6_338-5del rs370737647
NM_004484.4(GPC3):c.355G>T (p.Val119Phe) rs1060502171
NM_004484.4(GPC3):c.40A>T (p.Met14Leu)
NM_004484.4(GPC3):c.59T>G (p.Phe20Cys)
NM_004484.4(GPC3):c.79CCG[4] (p.Pro31del)
NM_004484.4(GPC3):c.875T>C (p.Ile292Thr)

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