ClinVar Miner

List of variants in gene GPC3 reported by Sema4, Sema4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
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.1167-8T>C rs182950534 0.00303
NM_004484.4(GPC3):c.826G>A (p.Gly276Ser) rs141100113 0.00082
NM_004484.4(GPC3):c.359G>A (p.Arg120His) rs148021273 0.00052
NM_004484.4(GPC3):c.876T>C (p.Ile292=) rs61754633 0.00024
NM_004484.4(GPC3):c.1631C>T (p.Pro544Leu) rs375606908 0.00011
NM_004484.4(GPC3):c.1680C>T (p.Ser560=) rs748480657 0.00008
NM_004484.4(GPC3):c.358C>T (p.Arg120Cys) rs587778392 0.00006
NM_004484.4(GPC3):c.672A>G (p.Gln224=) rs373406834 0.00006
NM_004484.4(GPC3):c.485A>G (p.Asn162Ser) rs780431445 0.00002
NM_004484.4(GPC3):c.1248G>A (p.Ala416=) rs201677091 0.00001
NM_004484.4(GPC3):c.342C>T (p.Ala114=) rs748391795 0.00001
NM_004484.4(GPC3):c.480C>T (p.Asp160=) rs970592059 0.00001
NM_004484.4(GPC3):c.797A>G (p.Gln266Arg) rs765072095 0.00001
NM_004484.4(GPC3):c.1574-7_1574-4del rs751413609
NM_004484.4(GPC3):c.1721G>C (p.Cys574Ser) rs2124257249
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.338-6_338-5dup rs370737647
NM_004484.4(GPC3):c.338-7_338-5del rs370737647

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.