ClinVar Miner

List of variants in gene PIGN reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_176787.5(PIGN):c.1860G>A (p.Val620=) rs374172871 0.00064
NM_176787.5(PIGN):c.253A>G (p.Ile85Val) rs202066215 0.00018
NM_176787.5(PIGN):c.2750C>T (p.Thr917Met) rs61755364 0.00014
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.2413G>A (p.Ala805Thr) rs771022458 0.00010
NM_176787.5(PIGN):c.1102C>T (p.Leu368Phe) rs142508030 0.00008
NM_176787.5(PIGN):c.776T>C (p.Phe259Ser) rs370310838 0.00007
NM_176787.5(PIGN):c.938A>C (p.Asn313Thr) rs916813245 0.00007
NM_176787.5(PIGN):c.1396C>T (p.His466Tyr) rs149709766 0.00006
NM_176787.5(PIGN):c.1694G>A (p.Arg565His) rs201835155 0.00006
NM_176787.5(PIGN):c.1708G>A (p.Ala570Thr) rs527249979 0.00006
NM_176787.5(PIGN):c.1333G>A (p.Val445Ile) rs187036839 0.00005
NM_176787.5(PIGN):c.1826C>T (p.Pro609Leu) rs371792847 0.00004
NM_176787.5(PIGN):c.1372G>A (p.Ala458Thr) rs370794466 0.00003
NM_176787.5(PIGN):c.881A>G (p.Gln294Arg) rs369738113 0.00003
NM_176787.5(PIGN):c.959A>G (p.Asn320Ser) rs936914222 0.00003
NM_176787.5(PIGN):c.1117G>T (p.Val373Leu) rs753687210 0.00002
NM_176787.5(PIGN):c.1363A>G (p.Ile455Val) rs761239739 0.00002
NM_176787.5(PIGN):c.1423A>G (p.Lys475Glu) rs375746864 0.00002
NM_176787.5(PIGN):c.2017A>G (p.Ser673Gly) rs754285689 0.00002
NM_176787.5(PIGN):c.1278T>A (p.His426Gln) rs1289460027 0.00001
NM_176787.5(PIGN):c.1600G>A (p.Val534Ile) rs1318186935 0.00001
NM_176787.5(PIGN):c.1697A>G (p.Tyr566Cys) rs540784458 0.00001
NM_176787.5(PIGN):c.1968G>A (p.Gln656=) rs1470358131 0.00001
NM_176787.5(PIGN):c.212C>T (p.Pro71Leu) rs753014750 0.00001
NM_176787.5(PIGN):c.2318T>C (p.Ile773Thr) rs958638006 0.00001
NM_176787.5(PIGN):c.2567C>T (p.Ser856Leu) rs780781469 0.00001
NM_176787.5(PIGN):c.265C>T (p.Arg89Cys) rs201242848 0.00001
NM_176787.5(PIGN):c.1049A>G (p.Asn350Ser)
NM_176787.5(PIGN):c.1077C>G (p.Ser359Arg) rs2147147064
NM_176787.5(PIGN):c.1343T>C (p.Val448Ala) rs2146577635
NM_176787.5(PIGN):c.1408A>G (p.Ile470Val) rs3862712
NM_176787.5(PIGN):c.1417G>A (p.Val473Ile) rs2034946066
NM_176787.5(PIGN):c.1648G>A (p.Ala550Thr) rs2034670400
NM_176787.5(PIGN):c.1675-4C>G
NM_176787.5(PIGN):c.1862T>A (p.Met621Lys)
NM_176787.5(PIGN):c.2091_2093del (p.Val698del) rs1167158496
NM_176787.5(PIGN):c.2230A>G (p.Ile744Val) rs374860427
NM_176787.5(PIGN):c.2411_2412delinsAG (p.Ile804Lys) rs1555679237
NM_176787.5(PIGN):c.2672G>A (p.Ser891Asn) rs1555676593
NM_176787.5(PIGN):c.2695A>G (p.Met899Val) rs2144985860
NM_176787.5(PIGN):c.2699C>G (p.Ser900Cys)
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_176787.5(PIGN):c.329G>A (p.Ser110Asn)
NM_176787.5(PIGN):c.509A>G (p.Asp170Gly) rs2036653453
NM_176787.5(PIGN):c.581C>T (p.Ser194Phe) rs2147313141
NM_176787.5(PIGN):c.704ATG[1] (p.Asp236del)
NM_176787.5(PIGN):c.719A>T (p.Glu240Val) rs780180671
NM_176787.5(PIGN):c.804G>C (p.Trp268Cys) rs1057520345
NM_176787.5(PIGN):c.804G>T (p.Trp268Cys) rs1057520345
NM_176787.5(PIGN):c.853A>C (p.Thr285Pro)
NM_176787.5(PIGN):c.923-12T>A rs1057523957

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