ClinVar Miner

List of variants in gene PIGG 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: 16
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HGVS dbSNP gnomAD frequency
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro) rs150802299 0.00014
NM_001127178.3(PIGG):c.1332+1G>A rs779043705 0.00001
NM_001127178.3(PIGG):c.498G>A (p.Trp166Ter) rs1418085145 0.00001
NM_001127178.3(PIGG):c.1030A>C (p.Met344Leu) rs757141700
NM_001127178.3(PIGG):c.1114+2T>G
NM_001127178.3(PIGG):c.1332+1G>T rs779043705
NM_001127178.3(PIGG):c.1333-1G>A
NM_001127178.3(PIGG):c.154+2T>C
NM_001127178.3(PIGG):c.2069+1G>C rs2108969826
NM_001127178.3(PIGG):c.2069+2T>G
NM_001127178.3(PIGG):c.2778_2782del (p.Cys927fs)
NM_001127178.3(PIGG):c.342dup (p.Thr115fs) rs886041687
NM_001127178.3(PIGG):c.641A>G (p.His214Arg)
NM_001127178.3(PIGG):c.759+2T>C rs1720189292
NM_001127178.3(PIGG):c.768_769dup (p.Thr257fs) rs1229339759

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