ClinVar Miner

List of variants in gene GPC3 studied for not specified

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Total variants: 28
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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.-39G>A rs185369906 0.01235
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.1167-8T>C rs182950534 0.00303
NM_004484.4(GPC3):c.826G>A (p.Gly276Ser) rs141100113 0.00082
NM_004484.4(GPC3):c.-19T>A rs763707932 0.00066
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.876T>C (p.Ile292=) rs61754633 0.00024
NM_004484.4(GPC3):c.176-40G>C rs371396859 0.00020
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.1263T>G (p.Leu421=) rs1474137107 0.00004
NM_004484.4(GPC3):c.39G>T (p.Ala13=) rs1057522079 0.00002
NM_004484.4(GPC3):c.693G>A (p.Gln231=) rs768782219 0.00002
GRCh37/hg19 Xq26.2(chrX:132833618-132969000)
NM_004484.4(GPC3):c.1033-4250del rs372010975
NM_004484.4(GPC3):c.1033-4262dup rs372010975
NM_004484.4(GPC3):c.136C>G (p.Gln46Glu) rs1556367745
NM_004484.4(GPC3):c.1426A>T (p.Met476Leu) rs200265913
NM_004484.4(GPC3):c.1574-7_1574-4del rs751413609
NM_004484.4(GPC3):c.222A>C (p.Ser74=) rs1556359362
NM_004484.4(GPC3):c.338-20dup rs370737647
NM_004484.4(GPC3):c.338-5del rs370737647
NM_004484.4(GPC3):c.338-6_338-5del rs370737647
NM_004484.4(GPC3):c.667C>T (p.Leu223=) rs1057521704

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