ClinVar Miner

List of variants in gene PIGQ reported as benign for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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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.915G>C (p.Leu305=) rs75952679 0.03672
NM_004204.5(PIGQ):c.27G>A (p.Thr9=) rs61753370 0.02006
NM_004204.5(PIGQ):c.1336-11C>G rs57125048 0.00683
NM_004204.5(PIGQ):c.1531+11C>T rs143549408 0.00683
NM_004204.5(PIGQ):c.75G>A (p.Pro25=) rs56293456 0.00656
NM_004204.5(PIGQ):c.1617C>T (p.Arg539=) rs141040910 0.00442
NM_004204.5(PIGQ):c.810C>T (p.Ala270=) rs35227916 0.00364
NM_004204.5(PIGQ):c.34G>A (p.Val12Ile) rs11864607 0.00271
NM_004204.5(PIGQ):c.1568G>A (p.Gly523Asp) rs117537178 0.00249
NM_004204.5(PIGQ):c.620G>A (p.Arg207Gln) rs200353362 0.00043
NM_004204.5(PIGQ):c.322G>A (p.Glu108Lys) rs200388707 0.00031
NM_004204.5(PIGQ):c.849G>T (p.Leu283=) rs373615860 0.00010
NM_004204.5(PIGQ):c.1069+22del
NM_004204.5(PIGQ):c.1224-63C>T rs59476302
NM_004204.5(PIGQ):c.1461C>G (p.Leu487=) rs1045274
NM_004204.5(PIGQ):c.942+92A>C rs2071980

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