ClinVar Miner

List of variants in gene PIGQ reported as likely pathogenic for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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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.1327_1335+2del rs2151047692
NM_004204.5(PIGQ):c.1345G>C (p.Gly449Arg) rs1361495767
NM_004204.5(PIGQ):c.1531+1G>A
NM_004204.5(PIGQ):c.241del (p.Leu81fs) rs2151044300

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