ClinVar Miner

List of variants in gene PIGG reported as pathogenic for not provided

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Total variants: 12
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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.2569C>T (p.Gln857Ter) rs1294683568 0.00001
NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter) rs752545577 0.00001
NM_001127178.3(PIGG):c.1163G>A (p.Trp388Ter) rs1560330387
NM_001127178.3(PIGG):c.1210del (p.Leu404fs) rs767849509
NM_001127178.3(PIGG):c.1579_1580delinsG (p.Thr527fs) rs1577095404
NM_001127178.3(PIGG):c.1702dup (p.Ser568fs)
NM_001127178.3(PIGG):c.1740_1743del (p.Phe580fs) rs1726676630
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer) rs771819481
NM_001127178.3(PIGG):c.342dup (p.Thr115fs) rs886041687
NM_001127178.3(PIGG):c.785del (p.Leu262fs) rs2108814954
NM_001127178.3(PIGG):c.901+1del rs782318668

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