ClinVar Miner

List of variants in gene PNPLA1 studied for autosomal recessive disease

Included ClinVar conditions (1196):
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Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_001374623.1(PNPLA1):c.1564T>C (p.Ser522Pro) rs4713956 0.66570
NM_001374623.1(PNPLA1):c.459C>T (p.Phe153=) rs2239795 0.42670
NM_001374623.1(PNPLA1):c.1268C>A (p.Pro423His) rs12199580 0.39557
NM_001374623.1(PNPLA1):c.776-35G>A rs10947600 0.39147
NM_001374623.1(PNPLA1):c.1469C>T (p.Thr490Met) rs12197079 0.28772
NM_001374623.1(PNPLA1):c.504+11C>T rs2239796 0.24754
NM_001374623.1(PNPLA1):c.1595+511A>C rs12214296 0.13494
NM_001374623.1(PNPLA1):c.1595+653G>A rs4713957 0.08088
NM_001374623.1(PNPLA1):c.863A>G (p.Glu288Gly) rs34598813 0.07866
NM_001374623.1(PNPLA1):c.715-9C>T rs73421652 0.02610
NM_001374623.1(PNPLA1):c.1595+384G>C rs146627469 0.01401
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter) rs45621032 0.01134
NM_001374623.1(PNPLA1):c.1595+532G>C rs114437563 0.01107
NM_001374623.1(PNPLA1):c.1578A>C (p.Lys526Asn) rs35398989 0.01093
NM_001374623.1(PNPLA1):c.1166T>C (p.Leu389Pro) rs59882043 0.00887
NM_001374623.1(PNPLA1):c.985T>C (p.Ser329Pro) rs78257597 0.00706
NM_001374623.1(PNPLA1):c.1595+430T>C rs182222837 0.00534
NM_001374623.1(PNPLA1):c.1595+640G>A rs137961117 0.00484
NM_001374623.1(PNPLA1):c.691G>A (p.Ala231Thr) rs74946910 0.00397
NM_001374623.1(PNPLA1):c.1595+544A>G rs145087163 0.00340
NM_001374623.1(PNPLA1):c.745G>A (p.Glu249Lys) rs45524833 0.00304
NM_001374623.1(PNPLA1):c.383C>T (p.Thr128Met) rs140585347 0.00290
NM_001374623.1(PNPLA1):c.537G>A (p.Gln179=) rs147389149 0.00184
NM_001374623.1(PNPLA1):c.1343C>T (p.Ala448Val) rs141744967 0.00072
NM_001374623.1(PNPLA1):c.627C>T (p.His209=) rs187453727 0.00026
NM_001374623.1(PNPLA1):c.87G>A (p.Ala29=) rs770164167 0.00024
NM_001374623.1(PNPLA1):c.845A>G (p.Glu282Gly) rs371888522 0.00021
NM_001374623.1(PNPLA1):c.1595+414C>T rs886061377 0.00019
NM_001374623.1(PNPLA1):c.1299G>A (p.Gly433=) rs767322248 0.00014
NM_001374623.1(PNPLA1):c.1595+622G>A rs535470541 0.00014
NM_001374623.1(PNPLA1):c.372C>T (p.Leu124=) rs185312959 0.00014
NM_001374623.1(PNPLA1):c.813T>A (p.Ile271=) rs201231660 0.00014
NM_001374623.1(PNPLA1):c.439-7C>T rs373711651 0.00012
NM_001374623.1(PNPLA1):c.1420G>A (p.Ala474Thr) rs139909055 0.00011
NM_001374623.1(PNPLA1):c.1062T>G (p.Pro354=) rs761075511 0.00010
NM_001374623.1(PNPLA1):c.1595+271C>T rs886061376 0.00010
NM_001374623.1(PNPLA1):c.235G>A (p.Val79Met) rs572438037 0.00006
NM_001374623.1(PNPLA1):c.744C>T (p.Tyr248=) rs139173161 0.00006
NM_001374623.1(PNPLA1):c.953G>A (p.Gly318Glu) rs143843185 0.00006
NM_001374623.1(PNPLA1):c.1595+340A>G rs375247045 0.00004
NM_001374623.1(PNPLA1):c.934A>G (p.Lys312Glu) rs199548644 0.00004
NM_001374623.1(PNPLA1):c.159G>A (p.Ser53=) rs371283191 0.00003
NM_001374623.1(PNPLA1):c.228C>T (p.Asn76=) rs181087505 0.00003
NM_001374623.1(PNPLA1):c.418T>C (p.Ser140Pro) rs781053760 0.00003
NM_001374623.1(PNPLA1):c.438+10C>T rs886061373 0.00002
NM_001374623.1(PNPLA1):c.514G>A (p.Asp172Asn) rs373148099 0.00002
NM_001374623.1(PNPLA1):c.955G>A (p.Asp319Asn) rs182227800 0.00002
NM_001374623.1(PNPLA1):c.100G>A (p.Ala34Thr) rs1182312612 0.00001
NM_001374623.1(PNPLA1):c.1465G>A (p.Val489Ile) rs1327123712 0.00001
NM_001374623.1(PNPLA1):c.1469+10C>G rs373131816 0.00001
NM_001374623.1(PNPLA1):c.1595+550A>G rs373548589 0.00001
NM_001374623.1(PNPLA1):c.1595+842C>T rs759813381 0.00001
NM_001374623.1(PNPLA1):c.276G>A (p.Pro92=) rs749816424 0.00001
NM_001374623.1(PNPLA1):c.335C>A (p.Ser112Tyr) rs369445146 0.00001
NM_001374623.1(PNPLA1):c.350C>T (p.Thr117Met) rs371307766 0.00001
NM_001374623.1(PNPLA1):c.464C>T (p.Pro155Leu) rs766188849 0.00001
NM_001374623.1(PNPLA1):c.496C>T (p.Arg166Cys) rs372072356 0.00001
NM_001374623.1(PNPLA1):c.614C>T (p.Pro205Leu) rs766215523 0.00001
NM_001374623.1(PNPLA1):c.675C>T (p.Ile225=) rs886061374 0.00001
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu) rs376245108 0.00001
NM_001374623.1(PNPLA1):c.92C>T (p.Ala31Val) rs1231123861 0.00001
NM_001374623.1(PNPLA1):c.100G>C (p.Ala34Pro) rs1182312612
NM_001374623.1(PNPLA1):c.1300del (p.Ala434fs) rs753687060
NM_001374623.1(PNPLA1):c.1328T>G (p.Leu443Arg) rs1771089963
NM_001374623.1(PNPLA1):c.1339C>T (p.Pro447Ser) rs1771090642
NM_001374623.1(PNPLA1):c.1489T>C (p.Ser497Pro)
NM_001374623.1(PNPLA1):c.149C>A (p.Ala50Glu) rs533584507
NM_001374623.1(PNPLA1):c.157T>C (p.Ser53Pro) rs1582046125
NM_001374623.1(PNPLA1):c.158C>G (p.Ser53Trp) rs1207879599
NM_001374623.1(PNPLA1):c.1593G>T (p.Val531=) rs375901638
NM_001374623.1(PNPLA1):c.1595+221G>C rs150486914
NM_001374623.1(PNPLA1):c.1595+777A>T rs1212752036
NM_001374623.1(PNPLA1):c.176C>T (p.Ala59Val) rs1561853847
NM_001374623.1(PNPLA1):c.178G>A (p.Ala60Thr)
NM_001374623.1(PNPLA1):c.205+5G>A rs1561853887
NM_001374623.1(PNPLA1):c.231G>C (p.Val77=) rs1561864099
NM_001374623.1(PNPLA1):c.266C>T (p.Pro89Leu) rs922934422
NM_001374623.1(PNPLA1):c.315C>T (p.Tyr105=) rs141261965
NM_001374623.1(PNPLA1):c.362A>C (p.His121Pro) rs1407871103
NM_001374623.1(PNPLA1):c.374C>A (p.Thr125Asn) rs1554137705
NM_001374623.1(PNPLA1):c.383C>A (p.Thr128Lys) rs140585347
NM_001374623.1(PNPLA1):c.387C>A (p.Asp129Glu) rs200806519
NM_001374623.1(PNPLA1):c.391G>T (p.Glu131Ter) rs1561864453
NM_001374623.1(PNPLA1):c.421A>G (p.Lys141Glu) rs1582078740
NM_001374623.1(PNPLA1):c.439-6G>A rs201125928
NM_001374623.1(PNPLA1):c.448T>C (p.Cys150Arg) rs1582081682
NM_001374623.1(PNPLA1):c.487C>A (p.Pro163Thr)
NM_001374623.1(PNPLA1):c.488C>T (p.Pro163Leu)
NM_001374623.1(PNPLA1):c.555C>T (p.Thr185=) rs748310345
NM_001374623.1(PNPLA1):c.56C>G (p.Ser19Trp) rs1373230987
NM_001374623.1(PNPLA1):c.646T>C (p.Cys216Arg) rs1554138062
NM_001374623.1(PNPLA1):c.715-10C>T rs1770824903
NM_001374623.1(PNPLA1):c.727TAC[2] (p.Tyr245del) rs1582086407
NM_001374623.1(PNPLA1):c.736C>T (p.Arg246Ter)
NM_001374623.1(PNPLA1):c.737G>C (p.Arg246Pro) rs746575171
NM_001374623.1(PNPLA1):c.820del (p.Arg274fs) rs1170446813
NM_001374623.1(PNPLA1):c.889C>T (p.Leu297Phe) rs752011907
NM_001374623.1(PNPLA1):c.92C>A (p.Ala31Asp) rs1231123861
NM_001374623.1(PNPLA1):c.939G>T (p.Glu313Asp) rs1582097565
NM_001374623.1(PNPLA1):c.940_952del (p.Trp314fs) rs1582097559
NM_001374623.1(PNPLA1):c.962G>A (p.Arg321Lys) rs886061375

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