ClinVar Miner

List of variants in gene PIGN reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_176787.5(PIGN):c.167C>T (p.Ala56Val) rs61755362 0.01101
NM_176787.5(PIGN):c.1488A>G (p.Ala496=) rs2298784 0.00911
NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu) rs34231046 0.00853
NM_176787.5(PIGN):c.309T>C (p.Ala103=) rs17069511 0.00346
NM_176787.5(PIGN):c.1617T>C (p.Tyr539=) rs147306123 0.00282
NM_176787.5(PIGN):c.2751G>T (p.Thr917=) rs200481058 0.00183
NM_176787.5(PIGN):c.2238A>G (p.Ile746Met) rs200658159 0.00117
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00014
NM_176787.5(PIGN):c.2750C>T (p.Thr917Met) rs61755364 0.00014
NM_176787.5(PIGN):c.1110G>C (p.Gln370His) rs185022348 0.00013
NM_176787.5(PIGN):c.2447A>G (p.Tyr816Cys) rs200750917 0.00012
NM_176787.5(PIGN):c.1333G>A (p.Val445Ile) rs187036839 0.00005
NM_176787.5(PIGN):c.1418T>C (p.Val473Ala) rs922043983 0.00003
NM_176787.5(PIGN):c.1423A>G (p.Lys475Glu) rs375746864 0.00002
NM_176787.5(PIGN):c.2486C>T (p.Ala829Val) rs375027313 0.00002
NM_176787.5(PIGN):c.2411_2412delinsAG (p.Ile804Lys) rs1555679237
NM_176787.5(PIGN):c.2441C>G (p.Ser814Cys) rs1379216492
NM_176787.5(PIGN):c.2577-13dup rs138671843

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