ClinVar Miner

List of variants in gene PIGN reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_176787.5(PIGN):c.2783G>A (p.Ser928Asn) rs201397391 0.00113
NM_176787.5(PIGN):c.364G>C (p.Glu122Gln) rs200756305 0.00043
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.1428A>T (p.Glu476Asp) rs182470608 0.00013
NM_176787.5(PIGN):c.2447A>G (p.Tyr816Cys) rs200750917 0.00012
NM_176787.5(PIGN):c.139G>C (p.Val47Leu) rs375744259 0.00011
NM_176787.5(PIGN):c.2707A>G (p.Ile903Val) rs747799115 0.00011
NM_176787.5(PIGN):c.2413G>A (p.Ala805Thr) rs771022458 0.00010
NM_176787.5(PIGN):c.1766A>G (p.Lys589Arg) rs775932562 0.00009
NM_176787.5(PIGN):c.1276C>A (p.His426Asn) rs550779204 0.00007
NM_176787.5(PIGN):c.1694G>A (p.Arg565His) rs201835155 0.00006
NM_176787.5(PIGN):c.2092G>A (p.Val698Met) rs369249247 0.00006
NM_176787.5(PIGN):c.1365A>G (p.Ile455Met) rs773897013 0.00004
NM_176787.5(PIGN):c.1646T>C (p.Leu549Ser) rs769428343 0.00004
NM_176787.5(PIGN):c.1826C>T (p.Pro609Leu) rs371792847 0.00004
NM_176787.5(PIGN):c.1984C>T (p.Leu662Phe) rs377552386 0.00004
NM_176787.5(PIGN):c.2354G>A (p.Arg785His) rs535563062 0.00004
NM_176787.5(PIGN):c.736A>T (p.Asn246Tyr) rs371787045 0.00004
NM_176787.5(PIGN):c.1372G>A (p.Ala458Thr) rs370794466 0.00003
NM_176787.5(PIGN):c.170A>G (p.Asp57Gly) rs745318716 0.00003
NM_176787.5(PIGN):c.781T>A (p.Ser261Thr) rs768752806 0.00003
NM_176787.5(PIGN):c.1117G>T (p.Val373Leu) rs753687210 0.00002
NM_176787.5(PIGN):c.1423A>G (p.Lys475Glu) rs375746864 0.00002
NM_176787.5(PIGN):c.1696T>C (p.Tyr566His) rs781624190 0.00001
NM_176787.5(PIGN):c.2272T>C (p.Cys758Arg) rs755079390 0.00001
NM_176787.5(PIGN):c.2301C>G (p.Phe767Leu) rs867665036 0.00001
NM_176787.5(PIGN):c.2330G>A (p.Arg777Gln) rs1367034182 0.00001
NM_176787.5(PIGN):c.2721C>G (p.Phe907Leu) rs780384079 0.00001
NM_176787.5(PIGN):c.2747C>T (p.Thr916Ile) rs753641623 0.00001
NM_176787.5(PIGN):c.1246G>A (p.Glu416Lys)
NM_176787.5(PIGN):c.1421G>A (p.Ser474Asn)
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu) rs201835155
NM_176787.5(PIGN):c.1759C>G (p.Arg587Gly) rs376226764
NM_176787.5(PIGN):c.1858G>C (p.Val620Leu)
NM_176787.5(PIGN):c.1909T>A (p.Ser637Thr)
NM_176787.5(PIGN):c.2091_2093del (p.Val698del) rs1167158496
NM_176787.5(PIGN):c.2224G>T (p.Val742Phe)
NM_176787.5(PIGN):c.2411T>C (p.Ile804Thr) rs199672087
NM_176787.5(PIGN):c.2411_2412delinsAG (p.Ile804Lys) rs1555679237
NM_176787.5(PIGN):c.2417C>T (p.Ser806Phe)
NM_176787.5(PIGN):c.2485G>A (p.Ala829Thr) rs1365364213
NM_176787.5(PIGN):c.2575A>C (p.Ser859Arg)
NM_176787.5(PIGN):c.2588T>C (p.Ile863Thr)
NM_176787.5(PIGN):c.2608A>G (p.Ile870Val)
NM_176787.5(PIGN):c.2620C>A (p.His874Asn)
NM_176787.5(PIGN):c.2770G>A (p.Gly924Ser)
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_176787.5(PIGN):c.45C>G (p.Phe15Leu) rs572483363
NM_176787.5(PIGN):c.464A>G (p.Tyr155Cys)
NM_176787.5(PIGN):c.587T>C (p.Phe196Ser) rs950233837
NM_176787.5(PIGN):c.625C>T (p.His209Tyr)
NM_176787.5(PIGN):c.649G>A (p.Gly217Arg)
NM_176787.5(PIGN):c.700G>C (p.Val234Leu)
NM_176787.5(PIGN):c.911C>T (p.Ala304Val)

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