ClinVar Miner

List of variants in gene PIGQ reported as pathogenic for epilepsy

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_004204.5(PIGQ):c.942+1G>A rs200661329 0.00006
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter) rs730882240 0.00002
NM_004204.5(PIGQ):c.968_969del (p.Leu323fs) rs747661902 0.00002
NM_004204.5(PIGQ):c.688C>T (p.Arg230Ter) rs1206309859 0.00001
NM_004204.5(PIGQ):c.690-2A>G rs587777543 0.00001
NC_000016.10:g.(?_578765)_(579200_?)del
NC_000016.9:g.(?_622268)_(632290_?)del
NC_000016.9:g.(?_624075)_(633035_?)del
NC_000016.9:g.(?_624589)_(626254_?)del
NM_004204.5(PIGQ):c.1024C>T (p.Gln342Ter) rs2151047073
NM_004204.5(PIGQ):c.1113G>A (p.Trp371Ter) rs1596385588
NM_004204.5(PIGQ):c.1134_1143del (p.Ala377_Cys378insTer)
NM_004204.5(PIGQ):c.1165_1166del (p.Ser389fs)
NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del) rs766667249
NM_004204.5(PIGQ):c.1333C>T (p.Gln445Ter)
NM_004204.5(PIGQ):c.1521C>G (p.Tyr507Ter)
NM_004204.5(PIGQ):c.1578_1579del (p.Arg527fs) rs2035826930
NM_004204.5(PIGQ):c.161_174del (p.Gln54fs) rs762696210
NM_004204.5(PIGQ):c.211C>T (p.Gln71Ter) rs1341033162
NM_004204.5(PIGQ):c.220G>T (p.Glu74Ter)
NM_004204.5(PIGQ):c.223G>T (p.Glu75Ter)
NM_004204.5(PIGQ):c.241del (p.Leu81fs) rs2151044300
NM_004204.5(PIGQ):c.254dup (p.Ala86fs)
NM_004204.5(PIGQ):c.255dup (p.Ala86fs)
NM_004204.5(PIGQ):c.418C>T (p.Gln140Ter)
NM_004204.5(PIGQ):c.449del (p.Arg150fs) rs2151044473
NM_004204.5(PIGQ):c.52_70dup (p.Val24fs) rs2151044127
NM_004204.5(PIGQ):c.532del (p.Ser178fs)
NM_004204.5(PIGQ):c.551del (p.Gly184fs) rs767373792
NM_004204.5(PIGQ):c.573G>A (p.Trp191Ter)
NM_004204.5(PIGQ):c.618del (p.Arg206fs) rs1229740428
NM_004204.5(PIGQ):c.637del (p.Cys213fs)
NM_004204.5(PIGQ):c.68G>A (p.Trp23Ter)
NM_004204.5(PIGQ):c.69G>A (p.Trp23Ter)
NM_004204.5(PIGQ):c.733_734del (p.Ser245fs) rs780581800
NM_004204.5(PIGQ):c.909del (p.His304fs)
NM_004204.5(PIGQ):c.91_106del (p.Val31fs) rs1567174597
NM_004204.5(PIGQ):c.942+1G>C rs200661329
NM_004204.5(PIGQ):c.961C>T (p.Gln321Ter)

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