ClinVar Miner

List of variants in gene PIGQ studied for complex neurodevelopmental disorder

Included ClinVar conditions (297):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_004204.5(PIGQ):c.639C>T (p.Cys213=) rs4984669 0.45828
NM_004204.5(PIGQ):c.943-77A>G rs3752568 0.45471
NM_004204.5(PIGQ):c.1416+142T>G rs2071982 0.45406
NM_004204.5(PIGQ):c.1416+104C>T rs7192508 0.45399
NM_004204.5(PIGQ):c.40A>G (p.Thr14Ala) rs2071979 0.45338
NM_004204.5(PIGQ):c.-9-1501A>G rs12917944 0.44962
NM_004204.5(PIGQ):c.1532-133G>A rs916415 0.44955
NM_004204.5(PIGQ):c.1532-68G>C rs4984897 0.44949
NM_004204.5(PIGQ):c.1532-50T>A rs916416 0.44947
NM_004204.5(PIGQ):c.1532-23T>C rs4006748 0.44936
NM_004204.5(PIGQ):c.1532-15T>C rs62030874 0.44935
NM_004204.5(PIGQ):c.1532-17del rs67976359 0.44933
NM_004204.5(PIGQ):c.1336-94C>T rs7191939 0.44713
NM_004204.5(PIGQ):c.1532-110C>T rs4262946 0.37630
NM_004204.5(PIGQ):c.1567G>A (p.Gly523Ser) rs7187227 0.16607
NM_004204.5(PIGQ):c.350C>T (p.Ala117Val) rs111753944 0.00508
NM_004204.5(PIGQ):c.91G>A (p.Val31Met) rs148273392 0.00010
NM_004204.5(PIGQ):c.65G>A (p.Arg22Gln) rs372361502 0.00006
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.618G>C (p.Arg206Ser) rs1375197363 0.00001
NM_004204.5(PIGQ):c.690-2A>G rs587777543 0.00001
NM_004204.5(PIGQ):c.1012C>G (p.Arg338Gly) rs559762174
NM_004204.5(PIGQ):c.1075_1085del (p.Ile359fs)
NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del) rs766667249
NM_004204.5(PIGQ):c.1224-63C>T rs59476302
NM_004204.5(PIGQ):c.1345G>C (p.Gly449Arg) rs1361495767
NM_004204.5(PIGQ):c.1461C>G (p.Leu487=) rs1045274
NM_004204.5(PIGQ):c.1556G>C (p.Arg519Pro)
NM_004204.5(PIGQ):c.1578_1579del (p.Arg527fs) rs2035826930
NM_004204.5(PIGQ):c.1673del (p.Gly558fs)
NM_004204.5(PIGQ):c.241del (p.Leu81fs) rs2151044300
NM_004204.5(PIGQ):c.503C>T (p.Thr168Met) rs771796362
NM_004204.5(PIGQ):c.880T>C (p.Ser294Pro) rs2151045576
NM_004204.5(PIGQ):c.942+92A>C rs2071980

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