ClinVar Miner

List of variants in gene PNPLA3 studied for NAFLD1

Included ClinVar conditions (1):
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Gene type:
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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_025225.3(PNPLA3):c.1300A>G (p.Lys434Glu) rs2294918 0.69785
NM_025225.3(PNPLA3):c.447C>T (p.Pro149=) rs738408 0.22297
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) rs738409 0.21657
NM_025225.3(PNPLA3):c.*63C>T rs2294919 0.20801
NM_025225.3(PNPLA3):c.*707T>C rs2008451 0.20072
NM_025225.3(PNPLA3):c.*889A>G rs1810508 0.19928
NM_025225.3(PNPLA3):c.*747T>A rs62228000 0.14809
NM_025225.3(PNPLA3):c.343G>T (p.Gly115Cys) rs2076212 0.13518
NM_025225.3(PNPLA3):c.561C>T (p.Phe187=) rs34179073 0.06272
NM_025225.3(PNPLA3):c.*429T>C rs41278873 0.04807
NM_025225.3(PNPLA3):c.*1090A>G rs9626058 0.04692
NM_025225.3(PNPLA3):c.1358G>T (p.Ser453Ile) rs6006460 0.03206
NM_025225.3(PNPLA3):c.187+12G>A rs116795637 0.01148
NM_025225.2(PNPLA3):c.-112A>T rs531789428 0.01143
NM_025225.2(PNPLA3):c.-111G>A rs548897706 0.00969
NM_025225.3(PNPLA3):c.-40C>G rs144821153 0.00742
NM_025225.3(PNPLA3):c.*393G>C rs41278871 0.00696
NM_025225.3(PNPLA3):c.980-15A>C rs144872932 0.00641
NM_025225.3(PNPLA3):c.992A>G (p.Glu331Gly) rs144233415 0.00593
NM_025225.3(PNPLA3):c.972C>T (p.Leu324=) rs116679026 0.00396
NM_025225.3(PNPLA3):c.309G>A (p.Pro103=) rs79118505 0.00354
NM_025225.3(PNPLA3):c.484G>A (p.Val162Met) rs141106484 0.00215
NM_025225.3(PNPLA3):c.696+12G>A rs185208551 0.00200
NM_025225.3(PNPLA3):c.*1175A>C rs529050829 0.00168
NM_025225.3(PNPLA3):c.*918G>A rs146578673 0.00140
NM_025225.3(PNPLA3):c.-44C>G rs773713393 0.00084
NM_025225.3(PNPLA3):c.*19T>G rs569255289 0.00074
NM_025225.3(PNPLA3):c.249C>T (p.Ile83=) rs370909367 0.00070
NM_025225.3(PNPLA3):c.*1068C>T rs746640250 0.00056
NM_025225.3(PNPLA3):c.557C>A (p.Pro186His) rs148866299 0.00036
NM_025225.3(PNPLA3):c.599C>T (p.Thr200Met) rs190477302 0.00033
NM_025225.3(PNPLA3):c.1091C>G (p.Ser364Cys) rs777761839 0.00031
NM_025225.3(PNPLA3):c.*448C>T rs555962274 0.00025
NM_025225.3(PNPLA3):c.*990T>A rs886057604 0.00024
NM_025225.3(PNPLA3):c.-69T>C rs916837240 0.00019
NM_025225.3(PNPLA3):c.646A>C (p.Thr216Pro) rs35726887 0.00019
NM_025225.3(PNPLA3):c.659A>G (p.Tyr220Cys) rs143392071 0.00019
NM_025225.3(PNPLA3):c.711A>G (p.Ile237Met) rs202103609 0.00015
NM_025225.3(PNPLA3):c.*275C>T rs537338257 0.00014
NM_025225.3(PNPLA3):c.1209C>T (p.Pro403=) rs184910573 0.00014
NM_025225.3(PNPLA3):c.1419C>T (p.Pro473=) rs376208148 0.00014
NM_025225.3(PNPLA3):c.*760T>C rs545853993 0.00013
NM_025225.3(PNPLA3):c.216T>C (p.Leu72=) rs147412464 0.00013
NM_025225.3(PNPLA3):c.1337C>T (p.Pro446Leu) rs201268858 0.00011
NM_025225.3(PNPLA3):c.414C>T (p.Val138=) rs768191646 0.00009
NM_025225.3(PNPLA3):c.*960T>G rs886057603 0.00006
NM_025225.3(PNPLA3):c.1338G>A (p.Pro446=) rs753625728 0.00006
NM_025225.3(PNPLA3):c.235C>T (p.Arg79Trp) rs200528261 0.00006
NM_025225.3(PNPLA3):c.283C>T (p.Arg95Ter) rs753837923 0.00006
NM_025225.3(PNPLA3):c.1112+14G>A rs138736228 0.00005
NM_025225.3(PNPLA3):c.226G>A (p.Ala76Thr) rs746140741 0.00004
NM_025225.3(PNPLA3):c.917G>A (p.Arg306His) rs372749129 0.00004
NM_025225.3(PNPLA3):c.1340G>A (p.Arg447Gln) rs147289545 0.00003
NM_025225.3(PNPLA3):c.406G>C (p.Asp136His) rs749773774 0.00003
NM_025225.3(PNPLA3):c.697-5C>A rs148469440 0.00003
NM_025225.3(PNPLA3):c.1186C>T (p.Arg396Ter) rs764895790 0.00002
NM_025225.2(PNPLA3):c.-131C>G rs2049901194 0.00001
NM_025225.3(PNPLA3):c.*176G>A rs1410221181 0.00001
NM_025225.3(PNPLA3):c.*626A>G rs564752977 0.00001
NM_025225.3(PNPLA3):c.*71T>G rs886057601 0.00001
NM_025225.3(PNPLA3):c.236G>A (p.Arg79Gln) rs768547361 0.00001
NM_025225.3(PNPLA3):c.980-14A>C rs781212740 0.00001
NM_025225.2(PNPLA3):c.-108T>C rs2049901492
NM_025225.2(PNPLA3):c.-168C>A rs140746182
NM_025225.2(PNPLA3):c.-180C>T rs1475474278
NM_025225.3(PNPLA3):c.*1076C>T rs886057605
NM_025225.3(PNPLA3):c.*141T>G rs886057602
NM_025225.3(PNPLA3):c.*222G>A rs537933350
NM_025225.3(PNPLA3):c.*346G>A rs554000765
NM_025225.3(PNPLA3):c.*812A>G rs2050069264
NM_025225.3(PNPLA3):c.1112+13G>T rs2050022020
NM_025225.3(PNPLA3):c.1359C>G (p.Ser453Arg) rs76510336
NM_025225.3(PNPLA3):c.295T>C (p.Cys99Arg) rs2076213
NM_025225.3(PNPLA3):c.295T>G (p.Cys99Gly) rs2076213
NM_025225.3(PNPLA3):c.494T>C (p.Val165Ala) rs1339511121
NM_025225.3(PNPLA3):c.617A>C (p.Asp206Ala) rs2049971622
NM_025225.3(PNPLA3):c.64del (p.His22fs) rs765529904
NM_025225.3(PNPLA3):c.697-4A>T rs375286131
NM_025225.3(PNPLA3):c.82T>C (p.Cys28Arg) rs2049903797
NM_025225.3(PNPLA3):c.862G>A (p.Glu288Lys) rs778267335
NM_025225.3(PNPLA3):c.950T>A (p.Leu317Gln) rs2050001627

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