ClinVar Miner

List of variants in gene PNPLA6 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_001166114.2(PNPLA6):c.3093+265A>G rs2432261 0.83393
NM_001166114.2(PNPLA6):c.2465+41C>G rs534464 0.79112
NM_001166114.2(PNPLA6):c.2635-79G>A rs524530 0.76489
NM_001166114.2(PNPLA6):c.2465+81T>C rs597582 0.76483
NM_001166114.2(PNPLA6):c.2634+39T>C rs599330 0.76480
NM_001166114.2(PNPLA6):c.2466-103G>C rs598028 0.76372
NM_001166114.2(PNPLA6):c.2466-112G>A rs598023 0.76343
NM_001166114.2(PNPLA6):c.1169-133G>C rs492092 0.69101
NM_001166114.2(PNPLA6):c.1362+8T>C rs620744 0.68799
NM_001166114.2(PNPLA6):c.2070+59T>G rs577219 0.67249
NM_001166114.2(PNPLA6):c.1609-116C>T rs574663 0.66922
NM_001166114.2(PNPLA6):c.3398-152T>C rs548664 0.58071
NM_001166114.2(PNPLA6):c.3398-262T>C rs547713 0.58039
NM_001166114.2(PNPLA6):c.3398-36G>A rs535208 0.58035
NM_001166114.2(PNPLA6):c.3397+56G>A rs1645800 0.57334
NM_001166114.2(PNPLA6):c.2260+151C>G rs661825 0.50416
NM_001166114.2(PNPLA6):c.2260+24G>A rs473899 0.50240
NM_001166114.2(PNPLA6):c.2260+196G>A rs496380 0.49040
NM_001166114.2(PNPLA6):c.2260+262C>T rs557596 0.48580
NM_001166114.2(PNPLA6):c.3280+38C>T rs489056 0.47937
NM_001166114.2(PNPLA6):c.3699+298C>T rs577029 0.41955
NM_001166114.2(PNPLA6):c.3699+41C>T rs538850 0.41358
NM_001166114.2(PNPLA6):c.2261-240T>C rs583984 0.41025
NM_001166114.2(PNPLA6):c.2261-101A>G rs508740 0.40978
NM_001166114.2(PNPLA6):c.2465+71T>C rs563266 0.40893
NM_001166114.2(PNPLA6):c.1608+245T>C rs499028 0.38146
NM_001166114.2(PNPLA6):c.2818-19A>G rs563826 0.35658
NM_001166114.2(PNPLA6):c.2635-19A>C rs539887 0.35604
NC_000019.10:g.7561783G>A rs2303178 0.33568
NM_001166114.2(PNPLA6):c.1253-6C>T rs574930 0.32237
NM_001166114.2(PNPLA6):c.2094G>A (p.Pro698=) rs8107538 0.26133
NM_001166114.2(PNPLA6):c.414-236T>A rs496110 0.25382
NM_006702.5(PNPLA6):c.-196+90C>T rs540516 0.25253
NM_001166114.2(PNPLA6):c.3699+42G>A rs538852 0.24937
NM_001166114.2(PNPLA6):c.3210+20T>G rs45505598 0.16710
NM_001166114.2(PNPLA6):c.3397+190C>T rs8110625 0.16683
NM_001166114.2(PNPLA6):c.3914-23T>C rs62111319 0.16648
NM_001166114.2(PNPLA6):c.3816+73C>T rs62111318 0.16632
NM_001166114.2(PNPLA6):c.3700-168G>A rs752972 0.16629
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro) rs17854645 0.16605
NM_001166114.2(PNPLA6):c.1608+165C>A rs12980173 0.16548
NM_001166114.2(PNPLA6):c.2260+128G>A rs2303177 0.11450
NM_001166114.2(PNPLA6):c.765C>T (p.Asn255=) rs591040 0.07584
NM_001166114.2(PNPLA6):c.3094-117A>G rs59918870 0.06690
NM_001166114.2(PNPLA6):c.3093+120A>G rs8108791 0.06669
NM_001166114.2(PNPLA6):c.3817-26A>G rs8100621 0.04724
NM_006702.5(PNPLA6):c.-43+220T>C rs746130 0.03707
NM_001166114.2(PNPLA6):c.1609-245T>G rs58969808 0.03337
NM_001166114.2(PNPLA6):c.2547G>A (p.Ser849=) rs522776 0.03285
NM_001166114.2(PNPLA6):c.2071-15C>T rs7250363 0.03172
NM_001166114.2(PNPLA6):c.3914-25C>T rs558233 0.03135
NM_001166114.2(PNPLA6):c.233-78T>C rs115515588 0.02812
NM_001166114.2(PNPLA6):c.2184+66T>C rs3745350 0.02742
NM_001166114.2(PNPLA6):c.3280+213G>A rs115635331 0.02659
NM_001166114.2(PNPLA6):c.1252+17C>A rs117630756 0.02222
NM_001166114.2(PNPLA6):c.3094-105C>T rs485232 0.01893
NM_001166114.2(PNPLA6):c.1609-34G>T rs115992487 0.01392
NM_001166114.2(PNPLA6):c.2260+93G>A rs114731788 0.01373
NM_001166114.2(PNPLA6):c.2260+147G>A rs111682764 0.01329
NM_001166114.2(PNPLA6):c.1253-158T>C rs115263133 0.01294
NM_001166114.2(PNPLA6):c.924+134T>C rs185417896 0.01281
NM_001166114.2(PNPLA6):c.414-213C>T rs10419250 0.01280
NM_001166114.2(PNPLA6):c.2706C>T (p.Gly902=) rs113264142 0.01159
NM_001166114.2(PNPLA6):c.2260+56T>C rs190644191 0.01095
NM_001166114.2(PNPLA6):c.3094-5C>T rs116788699 0.01066
NM_001166114.2(PNPLA6):c.2070+34T>C rs114833083 0.00964
NM_001166114.2(PNPLA6):c.1704C>G (p.Pro568=) rs62111288 0.00930
NM_001166114.2(PNPLA6):c.3603G>A (p.Gln1201=) rs112133109 0.00930
NM_001166114.2(PNPLA6):c.1168+125C>T rs111585020 0.00794
NM_001166114.2(PNPLA6):c.233-76T>C rs73921451 0.00794
NM_001166114.2(PNPLA6):c.2133G>A (p.Leu711=) rs113335442 0.00745
NM_001166114.2(PNPLA6):c.795+76A>T rs74912258 0.00632
NM_006702.5(PNPLA6):c.-43+215A>T rs112541066 0.00602
NM_001166114.2(PNPLA6):c.*79C>G rs144903832 0.00597
NM_001166114.2(PNPLA6):c.3817-28del rs199585191 0.00546
NM_001166114.2(PNPLA6):c.2261-79A>G rs113123206 0.00523
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162 0.00490
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932 0.00466
NM_001166114.2(PNPLA6):c.3700-155G>A rs115227024 0.00436
NM_001166114.2(PNPLA6):c.414-18C>T rs149630061 0.00421
NM_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=) rs34030828 0.00408
NM_001166114.2(PNPLA6):c.3280+129G>A rs114084348 0.00372
NM_001166114.2(PNPLA6):c.1005+14G>A rs190321280 0.00371
NM_006702.5(PNPLA6):c.-43+3G>A rs185247203 0.00274
NM_001166114.2(PNPLA6):c.2937-6C>T rs200932494 0.00214
NM_001166114.2(PNPLA6):c.4060C>T (p.Leu1354=) rs150392453 0.00202
NM_001166114.2(PNPLA6):c.3234C>T (p.Asn1078=) rs148831568 0.00174
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230 0.00160
NM_001166114.2(PNPLA6):c.2385C>T (p.His795=) rs143914980 0.00136
NM_001166114.2(PNPLA6):c.1109C>T (p.Pro370Leu) rs200897068 0.00128
NM_001166114.2(PNPLA6):c.2261-47T>C rs76701076 0.00103
NM_001166114.2(PNPLA6):c.315+13C>T rs200676307 0.00094
NM_001166114.2(PNPLA6):c.1485C>T (p.Ile495=) rs199903577 0.00089
NM_001166114.2(PNPLA6):c.1530+11G>A rs184998637 0.00087
NM_001166114.2(PNPLA6):c.3912C>T (p.Asp1304=) rs149871062 0.00087
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=) rs138837774 0.00064
NM_001166114.2(PNPLA6):c.1935C>G (p.Arg645=) rs138023728 0.00061
NM_001166114.2(PNPLA6):c.3914-11C>T rs371325894 0.00058
NM_001166114.2(PNPLA6):c.3699+17G>A rs141831508 0.00026
NM_001166114.2(PNPLA6):c.225A>G (p.Arg75=) rs553088930 0.00023
NM_001166114.2(PNPLA6):c.2818-4C>T rs533705093 0.00019
NM_001166114.2(PNPLA6):c.3712C>G (p.Gln1238Glu) rs143072391 0.00013
NM_001166114.2(PNPLA6):c.2939G>C (p.Gly980Ala) rs201902695 0.00011
NM_001166114.2(PNPLA6):c.796-11C>T rs758381371 0.00010
NM_001166114.2(PNPLA6):c.3181C>T (p.His1061Tyr) rs753273617 0.00009
NM_001166114.2(PNPLA6):c.2488G>C (p.Gly830Arg) rs1244234383 0.00006
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001166114.2(PNPLA6):c.3606A>G (p.Leu1202=) rs200234059 0.00005
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser) rs151264767 0.00005
NM_001166114.2(PNPLA6):c.1379C>T (p.Pro460Leu) rs375366178 0.00004
NM_001166114.2(PNPLA6):c.1626C>T (p.Phe542=) rs778970098 0.00004
NM_001166114.2(PNPLA6):c.3280+12C>T rs201782128 0.00004
NM_001166114.2(PNPLA6):c.2185-15C>T rs780822241 0.00003
NM_001166114.2(PNPLA6):c.232+14G>A rs199727584 0.00003
NM_001166114.2(PNPLA6):c.1181A>G (p.Lys394Arg) rs764509267 0.00002
NM_001166114.2(PNPLA6):c.2483del (p.Leu828fs) rs756542477 0.00002
NM_001166114.2(PNPLA6):c.3105G>A (p.Ser1035=) rs779667737 0.00002
NM_001166114.2(PNPLA6):c.38C>A (p.Ser13Ter) rs771019262 0.00002
NM_001166114.2(PNPLA6):c.4051C>T (p.Arg1351Ter) rs370033046 0.00002
NM_001166114.2(PNPLA6):c.649G>A (p.Gly217Ser) rs150620708 0.00002
NM_001166114.2(PNPLA6):c.1538C>T (p.Ser513Phe) rs1351660925 0.00001
NM_001166114.2(PNPLA6):c.1570G>A (p.Ala524Thr) rs763642095 0.00001
NM_001166114.2(PNPLA6):c.2016del (p.Ser673fs) rs765221332 0.00001
NM_001166114.2(PNPLA6):c.2148G>T (p.Glu716Asp) rs1425497937 0.00001
NM_001166114.2(PNPLA6):c.2337dup (p.Val780fs) rs757382473 0.00001
NM_001166114.2(PNPLA6):c.2440C>T (p.Arg814Cys) rs531445564 0.00001
NM_001166114.2(PNPLA6):c.3281-7C>T rs762489747 0.00001
NM_001166114.2(PNPLA6):c.3314C>T (p.Thr1105Met) rs1202026658 0.00001
NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln) rs1057517802 0.00001
NM_001166114.2(PNPLA6):c.3806G>A (p.Arg1269His) rs140155524 0.00001
NM_001166114.2(PNPLA6):c.838C>T (p.Arg280Trp) rs779386400 0.00001
NM_001166114.2(PNPLA6):c.1136A>T (p.Asp379Val)
NM_001166114.2(PNPLA6):c.1252+70T>C rs577866
NM_001166114.2(PNPLA6):c.1412G>A (p.Ser471Asn) rs2023216883
NM_001166114.2(PNPLA6):c.1609-175C>G rs573887
NM_001166114.2(PNPLA6):c.1673C>A (p.Ala558Glu) rs1473620669
NM_001166114.2(PNPLA6):c.2047G>C (p.Gly683Arg) rs2146088513
NM_001166114.2(PNPLA6):c.2070+161del rs66529260
NM_001166114.2(PNPLA6):c.2089C>T (p.Gln697Ter)
NM_001166114.2(PNPLA6):c.2184+123A>C rs115029724
NM_001166114.2(PNPLA6):c.2401+35G>A rs10424680
NM_001166114.2(PNPLA6):c.2634+38G>A rs599328
NM_001166114.2(PNPLA6):c.2634+38G>C rs599328
NM_001166114.2(PNPLA6):c.2923G>A (p.Gly975Arg) rs2146104239
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs) rs606231167
NM_001166114.2(PNPLA6):c.3074G>A (p.Arg1025Gln) rs751513186
NM_001166114.2(PNPLA6):c.315+84G>A rs146661810
NM_001166114.2(PNPLA6):c.3280+206G>A rs114611948
NM_001166114.2(PNPLA6):c.3281-73A>G rs2446176
NM_001166114.2(PNPLA6):c.3398-114TC[5] rs147968677
NM_001166114.2(PNPLA6):c.3398-99del rs201915883
NM_001166114.2(PNPLA6):c.3406G>A (p.Ala1136Thr) rs765257753
NM_001166114.2(PNPLA6):c.3517C>T (p.Arg1173Trp) rs766389806
NM_001166114.2(PNPLA6):c.3531G>C (p.Trp1177Cys) rs150230845
NM_001166114.2(PNPLA6):c.3699+221A>G rs146280504
NM_001166114.2(PNPLA6):c.3817-29dup rs35902090
NM_001166114.2(PNPLA6):c.3850_3851del (p.Leu1284fs) rs1057518107
NM_001166114.2(PNPLA6):c.3913+23del rs11307097
NM_001166114.2(PNPLA6):c.4023+72C>G rs45474094
NM_001166114.2(PNPLA6):c.4055G>A (p.Arg1352His) rs746687452
NM_001166114.2(PNPLA6):c.4060C>G (p.Leu1354Val) rs150392453
NM_001166114.2(PNPLA6):c.414-138dup rs762061101
NM_001166114.2(PNPLA6):c.414-161C>A rs1164415691
NM_001166114.2(PNPLA6):c.710G>A (p.Gly237Glu) rs765649401
NM_001166114.2(PNPLA6):c.714+77G>T rs10405345
NM_001166114.2(PNPLA6):c.795+41G>A rs117574616
NM_001166114.2(PNPLA6):c.899C>T (p.Pro300Leu)
NM_001166114.2(PNPLA6):c.924+123G>C rs140157839
NM_001166114.2(PNPLA6):c.925-12C>T rs370904772

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