ClinVar Miner

List of variants in gene PIGN studied for Inborn genetic diseases

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Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_176787.5(PIGN):c.685C>G (p.His229Asp) rs9320001 0.79552
NM_176787.5(PIGN):c.741C>T (p.His247=) rs9320000 0.56637
NM_176787.5(PIGN):c.939T>C (p.Asn313=) rs34227891 0.24195
NM_176787.5(PIGN):c.1962G>A (p.Leu654=) rs12326381 0.17264
NM_176787.5(PIGN):c.1245T>C (p.Asp415=) rs13381627 0.17246
NM_176787.5(PIGN):c.2010T>C (p.Thr670=) rs17714063 0.17242
NM_176787.5(PIGN):c.1752G>A (p.Leu584=) rs9319997 0.17086
NM_176787.5(PIGN):c.1377T>C (p.Ser459=) rs17714875 0.16805
NM_176787.5(PIGN):c.484A>G (p.Lys162Glu) rs17069506 0.04997
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.528G>A (p.Thr176=) rs144304758 0.00291
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.2783G>A (p.Ser928Asn) rs201397391 0.00113
NM_176787.5(PIGN):c.1860G>A (p.Val620=) rs374172871 0.00064
NM_176787.5(PIGN):c.364G>C (p.Glu122Gln) rs200756305 0.00043
NM_176787.5(PIGN):c.471T>C (p.Tyr157=) rs188661327 0.00029
NM_176787.5(PIGN):c.1749G>A (p.Arg583=) rs200401462 0.00025
NM_176787.5(PIGN):c.1404C>T (p.Asn468=) rs201927476 0.00021
NM_176787.5(PIGN):c.2580T>A (p.Leu860=) rs199959895 0.00019
NM_176787.5(PIGN):c.459C>T (p.His153=) rs376615257 0.00019
NM_176787.5(PIGN):c.213G>A (p.Pro71=) rs370553142 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.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.1992G>A (p.Met664Ile) rs564513512 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.548_549+6del rs779636222 0.00010
NM_176787.5(PIGN):c.1766A>G (p.Lys589Arg) rs775932562 0.00009
NM_176787.5(PIGN):c.1102C>T (p.Leu368Phe) rs142508030 0.00008
NM_176787.5(PIGN):c.1276C>A (p.His426Asn) rs550779204 0.00007
NM_176787.5(PIGN):c.1398T>C (p.His466=) rs61755361 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.1333G>A (p.Val445Ile) rs187036839 0.00005
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521 0.00005
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.1371T>C (p.Tyr457=) rs761856805 0.00003
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.2040G>A (p.Leu680=) rs774381597 0.00002
NM_176787.5(PIGN):c.48C>T (p.Phe16=) rs148669516 0.00002
NM_176787.5(PIGN):c.147T>C (p.Phe49=) rs1246376426 0.00001
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.2596G>A (p.Val866Ile) rs367627571 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.552C>T (p.Asp184=) rs747526155 0.00001
NM_176787.5(PIGN):c.1246G>A (p.Glu416Lys)
NM_176787.5(PIGN):c.1408A>T (p.Ile470Leu) rs3862712
NM_176787.5(PIGN):c.1421G>A (p.Ser474Asn)
NM_176787.5(PIGN):c.1593C>T (p.Asp531=)
NM_176787.5(PIGN):c.1675-1G>T rs772411133
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.1837C>T (p.Arg613Ter) rs765995917
NM_176787.5(PIGN):c.1858G>C (p.Val620Leu)
NM_176787.5(PIGN):c.1909T>A (p.Ser637Thr)
NM_176787.5(PIGN):c.1940del (p.Lys647fs) rs1555682938
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.2577-13dup rs138671843
NM_176787.5(PIGN):c.2588T>C (p.Ile863Thr)
NM_176787.5(PIGN):c.2608A>G (p.Ile870Val)
NM_176787.5(PIGN):c.2620-17dup rs11437076
NM_176787.5(PIGN):c.2620-5del rs11437076
NM_176787.5(PIGN):c.2620C>A (p.His874Asn)
NM_176787.5(PIGN):c.2740C>T (p.Leu914=) rs1568111385
NM_176787.5(PIGN):c.2751G>A (p.Thr917=)
NM_176787.5(PIGN):c.2770G>A (p.Gly924Ser)
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_176787.5(PIGN):c.426G>C (p.Leu142=) rs191939518
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.657T>C (p.Ala219=)
NM_176787.5(PIGN):c.700G>C (p.Val234Leu)
NM_176787.5(PIGN):c.705T>C (p.Asp235=) rs1218953227
NM_176787.5(PIGN):c.911C>T (p.Ala304Val)

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