ClinVar Miner

List of variants in gene PNPLA8 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 259
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HGVS dbSNP gnomAD frequency
NM_001256007.3(PNPLA8):c.1358+16T>C rs11971386 0.08285
NM_001256007.3(PNPLA8):c.885G>A (p.Thr295=) rs34936500 0.01126
NM_001256007.3(PNPLA8):c.2010G>A (p.Thr670=) rs62001049 0.01056
NM_001256007.3(PNPLA8):c.882C>T (p.Pro294=) rs35102983 0.01022
NM_001256007.3(PNPLA8):c.855A>G (p.Gln285=) rs35636300 0.00959
NM_001256007.3(PNPLA8):c.1971C>T (p.Ser657=) rs34848302 0.00644
NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys) rs139626312 0.00311
NM_001256007.3(PNPLA8):c.2292T>C (p.Asp764=) rs141467024 0.00246
NM_001256007.3(PNPLA8):c.1135T>G (p.Cys379Gly) rs141089628 0.00235
NM_001256007.3(PNPLA8):c.87G>A (p.Leu29=) rs112125737 0.00228
NM_001256007.3(PNPLA8):c.1359-18C>G rs75926214 0.00211
NM_001256007.3(PNPLA8):c.324G>A (p.Leu108=) rs141707516 0.00163
NM_001256007.3(PNPLA8):c.1683+16C>T rs180712890 0.00162
NM_001256007.3(PNPLA8):c.1615A>G (p.Asn539Asp) rs35773218 0.00133
NM_001256007.3(PNPLA8):c.830A>T (p.Asp277Val) rs147828742 0.00098
NM_001256007.3(PNPLA8):c.1023G>A (p.Glu341=) rs541866899 0.00072
NM_001256007.3(PNPLA8):c.990T>C (p.Thr330=) rs138412792 0.00066
NM_001256007.3(PNPLA8):c.910G>A (p.Gly304Ser) rs147242147 0.00064
NM_001256007.3(PNPLA8):c.1057-9T>C rs374544745 0.00026
NM_001256007.3(PNPLA8):c.795G>A (p.Thr265=) rs149043701 0.00022
NM_001256007.3(PNPLA8):c.363A>G (p.Glu121=) rs371594681 0.00018
NM_001256007.3(PNPLA8):c.587T>C (p.Ile196Thr) rs147092803 0.00015
NM_001256007.3(PNPLA8):c.461T>C (p.Ile154Thr) rs149352248 0.00014
NM_001256007.3(PNPLA8):c.1878+10C>T rs765163577 0.00006
NM_001256007.3(PNPLA8):c.280C>T (p.Leu94Phe) rs1408370599 0.00004
NM_001256007.3(PNPLA8):c.1474T>C (p.Leu492=) rs886651935 0.00003
NM_001256007.3(PNPLA8):c.560G>A (p.Arg187His) rs780391824 0.00003
NM_001256007.3(PNPLA8):c.1091G>T (p.Arg364Leu) rs759468647 0.00002
NM_001256007.3(PNPLA8):c.1278A>G (p.Glu426=) rs1420824978 0.00002
NM_001256007.3(PNPLA8):c.1436T>G (p.Ile479Ser) rs760094418 0.00002
NM_001256007.3(PNPLA8):c.1049G>A (p.Arg350Gln) rs539943926 0.00001
NM_001256007.3(PNPLA8):c.1057-19A>G rs750782396 0.00001
NM_001256007.3(PNPLA8):c.1207-19A>G rs773865740 0.00001
NM_001256007.3(PNPLA8):c.1453+18G>T rs1015353716 0.00001
NM_001256007.3(PNPLA8):c.1926G>A (p.Glu642=) rs1336240548 0.00001
NM_001256007.3(PNPLA8):c.2075-9C>G rs745753015 0.00001
NM_001256007.3(PNPLA8):c.2199A>G (p.Glu733=) rs769717465 0.00001
NM_001256007.3(PNPLA8):c.373C>T (p.Arg125Cys) rs760704135 0.00001
NC_000007.13:g.(?_108142915)_(108143106_?)del
NC_000007.13:g.(?_108154568)_(108155935_?)del
NM_001256007.3(PNPLA8):c.1025A>C (p.Glu342Ala) rs138887728
NM_001256007.3(PNPLA8):c.1025A>G (p.Glu342Gly) rs138887728
NM_001256007.3(PNPLA8):c.1033C>T (p.Arg345Cys)
NM_001256007.3(PNPLA8):c.1038A>C (p.Leu346Phe)
NM_001256007.3(PNPLA8):c.1044T>A (p.Leu348=)
NM_001256007.3(PNPLA8):c.1048C>T (p.Arg350Ter)
NM_001256007.3(PNPLA8):c.1056+11del
NM_001256007.3(PNPLA8):c.1057A>G (p.Ile353Val)
NM_001256007.3(PNPLA8):c.1068G>A (p.Arg356=)
NM_001256007.3(PNPLA8):c.1069G>A (p.Val357Met)
NM_001256007.3(PNPLA8):c.1072A>G (p.Ser358Gly)
NM_001256007.3(PNPLA8):c.1101T>G (p.Val367=)
NM_001256007.3(PNPLA8):c.1112GAA[1] (p.Arg372del)
NM_001256007.3(PNPLA8):c.1119A>G (p.Thr373=)
NM_001256007.3(PNPLA8):c.111T>C (p.His37=)
NM_001256007.3(PNPLA8):c.1142C>G (p.Thr381Ser)
NM_001256007.3(PNPLA8):c.1156C>T (p.Leu386=)
NM_001256007.3(PNPLA8):c.1170T>C (p.Leu390=)
NM_001256007.3(PNPLA8):c.1171C>T (p.Leu391=)
NM_001256007.3(PNPLA8):c.1203C>G (p.Val401=)
NM_001256007.3(PNPLA8):c.1206+11A>G
NM_001256007.3(PNPLA8):c.1206+9T>A
NM_001256007.3(PNPLA8):c.1207-12C>T
NM_001256007.3(PNPLA8):c.1207-13dup
NM_001256007.3(PNPLA8):c.1207-4A>G
NM_001256007.3(PNPLA8):c.1208A>G (p.Glu403Gly)
NM_001256007.3(PNPLA8):c.1221A>G (p.Pro407=)
NM_001256007.3(PNPLA8):c.1233A>T (p.Arg411=)
NM_001256007.3(PNPLA8):c.1256C>G (p.Thr419Ser)
NM_001256007.3(PNPLA8):c.1270G>A (p.Val424Ile) rs984635556
NM_001256007.3(PNPLA8):c.1271T>A (p.Val424Asp)
NM_001256007.3(PNPLA8):c.1273A>C (p.Arg425=)
NM_001256007.3(PNPLA8):c.1288C>T (p.Leu430=)
NM_001256007.3(PNPLA8):c.1291A>C (p.Ile431Leu)
NM_001256007.3(PNPLA8):c.1306C>G (p.Pro436Ala)
NM_001256007.3(PNPLA8):c.1317G>A (p.Gly439=)
NM_001256007.3(PNPLA8):c.1327C>A (p.Arg443=)
NM_001256007.3(PNPLA8):c.1327C>T (p.Arg443Ter)
NM_001256007.3(PNPLA8):c.1328G>A (p.Arg443Gln)
NM_001256007.3(PNPLA8):c.132C>T (p.Ile44=)
NM_001256007.3(PNPLA8):c.1330A>G (p.Ile444Val)
NM_001256007.3(PNPLA8):c.1333C>A (p.Leu445Ile)
NM_001256007.3(PNPLA8):c.1337C>A (p.Ser446Ter)
NM_001256007.3(PNPLA8):c.1339A>G (p.Ile447Val)
NM_001256007.3(PNPLA8):c.1358+14C>G
NM_001256007.3(PNPLA8):c.1359-13A>G
NM_001256007.3(PNPLA8):c.1359G>A (p.Arg453=)
NM_001256007.3(PNPLA8):c.1362C>T (p.Gly454=)
NM_001256007.3(PNPLA8):c.1374C>T (p.Leu458=)
NM_001256007.3(PNPLA8):c.1383A>G (p.Leu461=)
NM_001256007.3(PNPLA8):c.1384C>A (p.Arg462=)
NM_001256007.3(PNPLA8):c.1385G>A (p.Arg462Gln)
NM_001256007.3(PNPLA8):c.1453+11T>G
NM_001256007.3(PNPLA8):c.1453+14T>C
NM_001256007.3(PNPLA8):c.1453+7A>G
NM_001256007.3(PNPLA8):c.1453+9T>G
NM_001256007.3(PNPLA8):c.1454-13T>A
NM_001256007.3(PNPLA8):c.1454-14A>T
NM_001256007.3(PNPLA8):c.1459A>T (p.Ile487Leu)
NM_001256007.3(PNPLA8):c.145G>A (p.Gly49Ser)
NM_001256007.3(PNPLA8):c.1466C>T (p.Ala489Val)
NM_001256007.3(PNPLA8):c.1472T>C (p.Met491Thr)
NM_001256007.3(PNPLA8):c.1490T>C (p.Met497Thr)
NM_001256007.3(PNPLA8):c.1503A>G (p.Glu501=)
NM_001256007.3(PNPLA8):c.1505G>A (p.Cys502Tyr)
NM_001256007.3(PNPLA8):c.1525T>C (p.Leu509=)
NM_001256007.3(PNPLA8):c.1531T>A (p.Ser511Thr)
NM_001256007.3(PNPLA8):c.1545A>G (p.Ser515=)
NM_001256007.3(PNPLA8):c.1545A>T (p.Ser515=)
NM_001256007.3(PNPLA8):c.1576A>G (p.Ser526Gly)
NM_001256007.3(PNPLA8):c.1586A>G (p.His529Arg) rs1598909258
NM_001256007.3(PNPLA8):c.1599C>T (p.Asp533=)
NM_001256007.3(PNPLA8):c.160A>G (p.Ile54Val)
NM_001256007.3(PNPLA8):c.1625+10_1625+15del
NM_001256007.3(PNPLA8):c.1625+11A>G
NM_001256007.3(PNPLA8):c.1625+8A>G
NM_001256007.3(PNPLA8):c.1625+9C>T
NM_001256007.3(PNPLA8):c.1626-10T>A rs1336463962
NM_001256007.3(PNPLA8):c.1626-15del rs3214243
NM_001256007.3(PNPLA8):c.1628A>G (p.Asp543Gly)
NM_001256007.3(PNPLA8):c.1631G>A (p.Arg544Lys)
NM_001256007.3(PNPLA8):c.163A>G (p.Ile55Val)
NM_001256007.3(PNPLA8):c.1648A>C (p.Met550Leu)
NM_001256007.3(PNPLA8):c.1663A>G (p.Arg555Gly)
NM_001256007.3(PNPLA8):c.1675T>A (p.Cys559Ser)
NM_001256007.3(PNPLA8):c.168A>G (p.Arg56=)
NM_001256007.3(PNPLA8):c.1690G>T (p.Ala564Ser)
NM_001256007.3(PNPLA8):c.1712G>A (p.Arg571Lys)
NM_001256007.3(PNPLA8):c.172A>C (p.Lys58Gln)
NM_001256007.3(PNPLA8):c.1751G>T (p.Gly584Val)
NM_001256007.3(PNPLA8):c.1769A>C (p.Asn590Thr)
NM_001256007.3(PNPLA8):c.1780T>C (p.Leu594=)
NM_001256007.3(PNPLA8):c.1813A>G (p.Ile605Val)
NM_001256007.3(PNPLA8):c.1821C>T (p.Ala607=)
NM_001256007.3(PNPLA8):c.1854T>C (p.Tyr618=)
NM_001256007.3(PNPLA8):c.1856C>T (p.Ala619Val)
NM_001256007.3(PNPLA8):c.1878+13G>T
NM_001256007.3(PNPLA8):c.1878+8G>A
NM_001256007.3(PNPLA8):c.1879-17T>C
NM_001256007.3(PNPLA8):c.1879-4G>C
NM_001256007.3(PNPLA8):c.1879-4G>T
NM_001256007.3(PNPLA8):c.1879-9A>G
NM_001256007.3(PNPLA8):c.1888T>A (p.Leu630Met)
NM_001256007.3(PNPLA8):c.190G>C (p.Ala64Pro)
NM_001256007.3(PNPLA8):c.1915G>T (p.Ala639Ser)
NM_001256007.3(PNPLA8):c.1918A>G (p.Met640Val)
NM_001256007.3(PNPLA8):c.1940G>T (p.Trp647Leu)
NM_001256007.3(PNPLA8):c.1953G>A (p.Pro651=)
NM_001256007.3(PNPLA8):c.1953G>T (p.Pro651=)
NM_001256007.3(PNPLA8):c.1960T>G (p.Cys654Gly)
NM_001256007.3(PNPLA8):c.1963A>T (p.Ile655Leu)
NM_001256007.3(PNPLA8):c.1968A>G (p.Val656=)
NM_001256007.3(PNPLA8):c.1978A>G (p.Thr660Ala)
NM_001256007.3(PNPLA8):c.1981G>A (p.Gly661Arg)
NM_001256007.3(PNPLA8):c.2009C>T (p.Thr670Met)
NM_001256007.3(PNPLA8):c.2018A>C (p.Tyr673Ser) rs1361560930
NM_001256007.3(PNPLA8):c.2019C>T (p.Tyr673=) rs779167282
NM_001256007.3(PNPLA8):c.2023A>G (p.Ser675Gly)
NM_001256007.3(PNPLA8):c.2062A>G (p.Thr688Ala)
NM_001256007.3(PNPLA8):c.2074+11T>C
NM_001256007.3(PNPLA8):c.2074+18C>T
NM_001256007.3(PNPLA8):c.2075-14T>A
NM_001256007.3(PNPLA8):c.2075-14T>C
NM_001256007.3(PNPLA8):c.2075-5A>G
NM_001256007.3(PNPLA8):c.207G>A (p.Lys69=)
NM_001256007.3(PNPLA8):c.2097C>A (p.Gly699=)
NM_001256007.3(PNPLA8):c.2121T>C (p.Phe707=)
NM_001256007.3(PNPLA8):c.2132C>T (p.Pro711Leu) rs1859701806
NM_001256007.3(PNPLA8):c.2134G>A (p.Val712Ile)
NM_001256007.3(PNPLA8):c.2142T>C (p.Cys714=)
NM_001256007.3(PNPLA8):c.2167C>T (p.Arg723Ter)
NM_001256007.3(PNPLA8):c.2193G>A (p.Gln731=)
NM_001256007.3(PNPLA8):c.2193G>T (p.Gln731His)
NM_001256007.3(PNPLA8):c.2212A>C (p.Ile738Leu)
NM_001256007.3(PNPLA8):c.2227C>T (p.Gln743Ter)
NM_001256007.3(PNPLA8):c.222A>G (p.Pro74=)
NM_001256007.3(PNPLA8):c.2256A>G (p.Leu752=)
NM_001256007.3(PNPLA8):c.2259_2263del (p.Ser753fs)
NM_001256007.3(PNPLA8):c.2269A>T (p.Thr757Ser)
NM_001256007.3(PNPLA8):c.2275_2276del (p.Leu759fs) rs774184465
NM_001256007.3(PNPLA8):c.2306A>G (p.Lys769Arg)
NM_001256007.3(PNPLA8):c.256C>T (p.Leu86Phe)
NM_001256007.3(PNPLA8):c.259A>T (p.Ser87Cys)
NM_001256007.3(PNPLA8):c.273C>T (p.Pro91=)
NM_001256007.3(PNPLA8):c.291G>T (p.Val97=)
NM_001256007.3(PNPLA8):c.294C>T (p.Asn98=)
NM_001256007.3(PNPLA8):c.294_333delinsACTCTGTTTTTGGCAA (p.Asn98_Val111delinsLysLeuCysPheTrpGln)
NM_001256007.3(PNPLA8):c.295A>G (p.Ile99Val)
NM_001256007.3(PNPLA8):c.307C>T (p.Arg103Cys)
NM_001256007.3(PNPLA8):c.308G>A (p.Arg103His)
NM_001256007.3(PNPLA8):c.340G>A (p.Ala114Thr)
NM_001256007.3(PNPLA8):c.372A>T (p.Ser124=)
NM_001256007.3(PNPLA8):c.395G>A (p.Ser132Asn)
NM_001256007.3(PNPLA8):c.40C>T (p.Leu14Phe)
NM_001256007.3(PNPLA8):c.419C>A (p.Ser140Ter) rs768181060
NM_001256007.3(PNPLA8):c.420G>A (p.Ser140=)
NM_001256007.3(PNPLA8):c.422A>G (p.Asp141Gly)
NM_001256007.3(PNPLA8):c.44G>A (p.Ser15Asn)
NM_001256007.3(PNPLA8):c.455A>C (p.Gln152Pro)
NM_001256007.3(PNPLA8):c.467C>T (p.Ser156Phe)
NM_001256007.3(PNPLA8):c.470T>C (p.Leu157Pro)
NM_001256007.3(PNPLA8):c.470del (p.Leu157fs)
NM_001256007.3(PNPLA8):c.471G>A (p.Leu157=)
NM_001256007.3(PNPLA8):c.480T>C (p.Tyr160=)
NM_001256007.3(PNPLA8):c.48T>C (p.Asn16=)
NM_001256007.3(PNPLA8):c.552A>C (p.Ile184=) rs2154516741
NM_001256007.3(PNPLA8):c.558A>G (p.Lys186=)
NM_001256007.3(PNPLA8):c.55del (p.Ser19fs)
NM_001256007.3(PNPLA8):c.606C>T (p.Asp202=)
NM_001256007.3(PNPLA8):c.618T>A (p.Phe206Leu)
NM_001256007.3(PNPLA8):c.624A>C (p.Ser208=)
NM_001256007.3(PNPLA8):c.634_637del (p.Asn212fs) rs786205882
NM_001256007.3(PNPLA8):c.639A>C (p.Ser213=)
NM_001256007.3(PNPLA8):c.649C>T (p.Arg217Cys)
NM_001256007.3(PNPLA8):c.650G>A (p.Arg217His)
NM_001256007.3(PNPLA8):c.650G>C (p.Arg217Pro)
NM_001256007.3(PNPLA8):c.681T>C (p.Asn227=)
NM_001256007.3(PNPLA8):c.699A>C (p.Lys233Asn)
NM_001256007.3(PNPLA8):c.699A>G (p.Lys233=)
NM_001256007.3(PNPLA8):c.726A>G (p.Glu242=)
NM_001256007.3(PNPLA8):c.730G>A (p.Gly244Arg)
NM_001256007.3(PNPLA8):c.732G>A (p.Gly244=)
NM_001256007.3(PNPLA8):c.735A>T (p.Lys245Asn)
NM_001256007.3(PNPLA8):c.741A>G (p.Arg247=)
NM_001256007.3(PNPLA8):c.747A>C (p.Pro249=)
NM_001256007.3(PNPLA8):c.748G>A (p.Asp250Asn)
NM_001256007.3(PNPLA8):c.759C>T (p.Ile253=)
NM_001256007.3(PNPLA8):c.777C>A (p.Gly259=)
NM_001256007.3(PNPLA8):c.786T>C (p.Ser262=)
NM_001256007.3(PNPLA8):c.794C>T (p.Thr265Met)
NM_001256007.3(PNPLA8):c.797T>G (p.Val266Gly)
NM_001256007.3(PNPLA8):c.7A>G (p.Ile3Val)
NM_001256007.3(PNPLA8):c.802A>C (p.Lys268Gln)
NM_001256007.3(PNPLA8):c.802A>G (p.Lys268Glu)
NM_001256007.3(PNPLA8):c.807T>A (p.Pro269=)
NM_001256007.3(PNPLA8):c.808A>G (p.Thr270Ala)
NM_001256007.3(PNPLA8):c.809C>T (p.Thr270Ile)
NM_001256007.3(PNPLA8):c.810A>C (p.Thr270=)
NM_001256007.3(PNPLA8):c.821C>T (p.Ala274Val)
NM_001256007.3(PNPLA8):c.822G>A (p.Ala274=)
NM_001256007.3(PNPLA8):c.840A>G (p.Gln280=)
NM_001256007.3(PNPLA8):c.86T>A (p.Leu29Gln)
NM_001256007.3(PNPLA8):c.86_87insA (p.Tyr30fs)
NM_001256007.3(PNPLA8):c.870dup (p.Leu291fs)
NM_001256007.3(PNPLA8):c.884C>T (p.Thr295Met)
NM_001256007.3(PNPLA8):c.891T>G (p.Gly297=)
NM_001256007.3(PNPLA8):c.892G>A (p.Val298Ile)
NM_001256007.3(PNPLA8):c.908G>A (p.Gly303Asp)
NM_001256007.3(PNPLA8):c.90T>C (p.Tyr30=)
NM_001256007.3(PNPLA8):c.915T>C (p.Tyr305=)
NM_001256007.3(PNPLA8):c.924A>T (p.Gly308=)
NM_001256007.3(PNPLA8):c.929T>C (p.Val310Ala)
NM_001256007.3(PNPLA8):c.935A>T (p.Lys312Ile)
NM_001256007.3(PNPLA8):c.936A>G (p.Lys312=)
NM_001256007.3(PNPLA8):c.946G>T (p.Asp316Tyr)
NM_001256007.3(PNPLA8):c.962C>T (p.Ser321Leu)
NM_001256007.3(PNPLA8):c.972G>C (p.Gln324His)
NM_001256007.3(PNPLA8):c.989C>T (p.Thr330Ile)
NM_001256007.3(PNPLA8):c.994C>G (p.Gln332Glu)

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