ClinVar Miner

List of variants in gene PRDM8 reported as uncertain significance for early-onset Lafora body disease

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 187
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HGVS dbSNP gnomAD frequency
NM_001099403.2(PRDM8):c.721C>T (p.Pro241Ser) rs201806195 0.00060
NM_001099403.2(PRDM8):c.1412G>A (p.Ser471Asn) rs575791037 0.00046
NM_001099403.2(PRDM8):c.884A>C (p.His295Pro) rs767560709 0.00026
NM_001099403.2(PRDM8):c.1727T>A (p.Leu576Gln) rs562277889 0.00024
NM_001099403.2(PRDM8):c.1235A>T (p.Glu412Val) rs1032197214 0.00009
NM_001099403.2(PRDM8):c.1367G>A (p.Arg456Lys) rs940171879 0.00009
NM_001099403.2(PRDM8):c.1408G>A (p.Gly470Ser) rs932918812 0.00009
NM_001099403.2(PRDM8):c.1621G>T (p.Ala541Ser) rs371675673 0.00008
NM_001099403.2(PRDM8):c.1651G>A (p.Gly551Arg) rs762888947 0.00008
NM_001099403.2(PRDM8):c.1343G>A (p.Arg448Gln) rs983217484 0.00006
NM_001099403.2(PRDM8):c.146C>A (p.Thr49Asn) rs553212056 0.00006
NM_001099403.2(PRDM8):c.865A>G (p.Ser289Gly) rs1443007613 0.00006
NM_001099403.2(PRDM8):c.1138G>A (p.Glu380Lys) rs769213647 0.00005
NM_001099403.2(PRDM8):c.14G>A (p.Gly5Asp) rs372824214 0.00005
NM_001099403.2(PRDM8):c.1691G>C (p.Ser564Thr) rs753837771 0.00005
NM_001099403.2(PRDM8):c.10A>G (p.Thr4Ala) rs190431626 0.00004
NM_001099403.2(PRDM8):c.1450G>A (p.Gly484Ser) rs1014065137 0.00004
NM_001099403.2(PRDM8):c.1586C>T (p.Ala529Val) rs760114885 0.00004
NM_001099403.2(PRDM8):c.1618G>T (p.Ala540Ser) rs780056353 0.00004
NM_001099403.2(PRDM8):c.1666A>C (p.Asn556His) rs768703640 0.00004
NM_001099403.2(PRDM8):c.2020T>C (p.Ser674Pro) rs750098513 0.00004
NM_001099403.2(PRDM8):c.622G>A (p.Gly208Ser) rs761182081 0.00004
NM_001099403.2(PRDM8):c.647A>T (p.Gln216Leu) rs766078819 0.00004
NM_001099403.2(PRDM8):c.697C>G (p.Leu233Val) rs771970888 0.00004
NM_001099403.2(PRDM8):c.1374C>A (p.Ser458Arg) rs1271340866 0.00003
NM_001099403.2(PRDM8):c.1409G>A (p.Gly470Asp) rs1388275056 0.00003
NM_001099403.2(PRDM8):c.1673G>T (p.Gly558Val) rs1454069268 0.00003
NM_001099403.2(PRDM8):c.1688C>G (p.Pro563Arg) rs760525459 0.00003
NM_001099403.2(PRDM8):c.1721C>G (p.Pro574Arg) rs746174564 0.00003
NM_001099403.2(PRDM8):c.1813C>G (p.Leu605Val) rs749676209 0.00003
NM_001099403.2(PRDM8):c.2000A>G (p.Lys667Arg) rs1223656077 0.00003
NM_001099403.2(PRDM8):c.202G>A (p.Val68Ile) rs1030327610 0.00003
NM_001099403.2(PRDM8):c.757A>G (p.Ser253Gly) rs749501319 0.00003
NM_001099403.2(PRDM8):c.1075G>A (p.Gly359Ser) rs1369436425 0.00002
NM_001099403.2(PRDM8):c.1114G>A (p.Ala372Thr) rs910463955 0.00002
NM_001099403.2(PRDM8):c.1300G>A (p.Glu434Lys) rs1267354661 0.00002
NM_001099403.2(PRDM8):c.26G>A (p.Gly9Asp) rs756625230 0.00002
NM_001099403.2(PRDM8):c.679T>A (p.Phe227Ile) rs768596814 0.00002
NM_001099403.2(PRDM8):c.1024C>A (p.Pro342Thr) rs552217106 0.00001
NM_001099403.2(PRDM8):c.1055C>A (p.Pro352Gln) rs1332727339 0.00001
NM_001099403.2(PRDM8):c.1087G>C (p.Gly363Arg) rs1220553796 0.00001
NM_001099403.2(PRDM8):c.1135G>A (p.Gly379Ser) rs1738596858 0.00001
NM_001099403.2(PRDM8):c.1147C>T (p.Arg383Cys) rs775117967 0.00001
NM_001099403.2(PRDM8):c.1164G>C (p.Glu388Asp) rs1402048793 0.00001
NM_001099403.2(PRDM8):c.1175C>G (p.Ala392Gly) rs1320384072 0.00001
NM_001099403.2(PRDM8):c.118A>G (p.Ile40Val) rs772463473 0.00001
NM_001099403.2(PRDM8):c.1246G>A (p.Ala416Thr) rs568061115 0.00001
NM_001099403.2(PRDM8):c.127C>T (p.Pro43Ser) rs765881338 0.00001
NM_001099403.2(PRDM8):c.1283C>T (p.Ala428Val) rs1185570106 0.00001
NM_001099403.2(PRDM8):c.1324G>A (p.Gly442Arg) rs1393840872 0.00001
NM_001099403.2(PRDM8):c.1357A>G (p.Ser453Gly) rs907653529 0.00001
NM_001099403.2(PRDM8):c.1400G>A (p.Gly467Asp) rs1185771802 0.00001
NM_001099403.2(PRDM8):c.1405G>A (p.Ala469Thr) rs1738641895 0.00001
NM_001099403.2(PRDM8):c.1426G>A (p.Gly476Ser) rs1157815573 0.00001
NM_001099403.2(PRDM8):c.1453G>T (p.Gly485Cys) rs1024569997 0.00001
NM_001099403.2(PRDM8):c.1585G>T (p.Ala529Ser) rs1254406151 0.00001
NM_001099403.2(PRDM8):c.1590C>G (p.Asp530Glu) rs763088636 0.00001
NM_001099403.2(PRDM8):c.1624G>T (p.Ala542Ser) rs866553864 0.00001
NM_001099403.2(PRDM8):c.1637C>T (p.Ala546Val) rs781679159 0.00001
NM_001099403.2(PRDM8):c.1643A>G (p.Lys548Arg) rs1320311514 0.00001
NM_001099403.2(PRDM8):c.164T>A (p.Ile55Lys) rs762557383 0.00001
NM_001099403.2(PRDM8):c.1650G>C (p.Gln550His) rs776091682 0.00001
NM_001099403.2(PRDM8):c.1795G>A (p.Gly599Arg) rs1222858653 0.00001
NM_001099403.2(PRDM8):c.1807C>A (p.Leu603Met) rs1045840735 0.00001
NM_001099403.2(PRDM8):c.1832T>C (p.Leu611Pro) rs1317721429 0.00001
NM_001099403.2(PRDM8):c.1892A>G (p.Asn631Ser) rs763030062 0.00001
NM_001099403.2(PRDM8):c.1955A>G (p.Tyr652Cys) rs758969495 0.00001
NM_001099403.2(PRDM8):c.1966C>T (p.Pro656Ser) rs200471159 0.00001
NM_001099403.2(PRDM8):c.209A>G (p.Tyr70Cys) rs1272386839 0.00001
NM_001099403.2(PRDM8):c.40G>A (p.Asp14Asn) rs1274150288 0.00001
NM_001099403.2(PRDM8):c.636G>C (p.Gln212His) rs767033532 0.00001
NM_001099403.2(PRDM8):c.689C>G (p.Ala230Gly) rs1022510998 0.00001
NM_001099403.2(PRDM8):c.68C>A (p.Thr23Lys) rs752328279 0.00001
NM_001099403.2(PRDM8):c.742G>A (p.Ala248Thr) rs750455114 0.00001
NM_001099403.2(PRDM8):c.814C>T (p.Arg272Trp) rs202018297 0.00001
NM_001099403.2(PRDM8):c.838G>A (p.Ala280Thr) rs1738548476 0.00001
NM_001099403.2(PRDM8):c.845G>C (p.Ser282Thr) rs1296298879 0.00001
NM_001099403.2(PRDM8):c.847C>A (p.Leu283Ile) rs1211529205 0.00001
NM_001099403.2(PRDM8):c.861C>G (p.Ser287Arg) rs768031665 0.00001
NM_001099403.2(PRDM8):c.862G>A (p.Gly288Ser) rs930461579 0.00001
NM_001099403.2(PRDM8):c.868G>A (p.Gly290Ser) rs756736858 0.00001
NM_001099403.2(PRDM8):c.919A>G (p.Thr307Ala) rs1487456427 0.00001
NC_000004.11:g.(?_81121235)_(81124686_?)dup
NM_001099403.2(PRDM8):c.1025C>T (p.Pro342Leu) rs1236884779
NM_001099403.2(PRDM8):c.1042C>A (p.Leu348Met)
NM_001099403.2(PRDM8):c.1079G>T (p.Ser360Ile)
NM_001099403.2(PRDM8):c.1084T>A (p.Phe362Ile) rs2109879102
NM_001099403.2(PRDM8):c.1084T>C (p.Phe362Leu)
NM_001099403.2(PRDM8):c.1109T>C (p.Leu370Pro) rs1449739343
NM_001099403.2(PRDM8):c.1142_1204del (p.Ala381_Glu401del) rs2109879206
NM_001099403.2(PRDM8):c.1166T>C (p.Val389Ala) rs1738600010
NM_001099403.2(PRDM8):c.1168AAG[1] (p.Lys391del) rs904587436
NM_001099403.2(PRDM8):c.1173G>T (p.Lys391Asn) rs1292648964
NM_001099403.2(PRDM8):c.1177G>A (p.Ala393Thr)
NM_001099403.2(PRDM8):c.1184C>T (p.Ala395Val)
NM_001099403.2(PRDM8):c.1210G>A (p.Ala404Thr) rs1422650743
NM_001099403.2(PRDM8):c.121T>G (p.Phe41Val) rs1199491730
NM_001099403.2(PRDM8):c.1225G>A (p.Val409Ile) rs1483533129
NM_001099403.2(PRDM8):c.1229C>A (p.Ala410Asp)
NM_001099403.2(PRDM8):c.1245C>A (p.Asp415Glu) rs1014511302
NM_001099403.2(PRDM8):c.1249GGC[3] (p.Gly420_Gly421del) rs1024186691
NM_001099403.2(PRDM8):c.1249GGC[6] (p.Gly421dup) rs1024186691
NM_001099403.2(PRDM8):c.1249GGC[7] (p.Gly420_Gly421dup) rs1024186691
NM_001099403.2(PRDM8):c.1270A>C (p.Thr424Pro)
NM_001099403.2(PRDM8):c.1279_1284del (p.Ala427_Ala428del) rs1738619565
NM_001099403.2(PRDM8):c.1288C>T (p.Pro430Ser) rs979733757
NM_001099403.2(PRDM8):c.1305G>C (p.Lys435Asn)
NM_001099403.2(PRDM8):c.1336C>T (p.Pro446Ser) rs1738630893
NM_001099403.2(PRDM8):c.1343G>C (p.Arg448Pro)
NM_001099403.2(PRDM8):c.1350G>T (p.Glu450Asp) rs1578265647
NM_001099403.2(PRDM8):c.1436G>A (p.Gly479Asp) rs1560479017
NM_001099403.2(PRDM8):c.1441G>C (p.Gly481Arg)
NM_001099403.2(PRDM8):c.1447G>A (p.Ala483Thr) rs544862921
NM_001099403.2(PRDM8):c.1454G>A (p.Gly485Asp) rs1441323262
NM_001099403.2(PRDM8):c.1455_1463del (p.483AGG[1])
NM_001099403.2(PRDM8):c.1573C>G (p.Pro525Ala) rs575215294
NM_001099403.2(PRDM8):c.1579C>T (p.His527Tyr) rs2109880022
NM_001099403.2(PRDM8):c.1615C>T (p.Pro539Ser) rs755993425
NM_001099403.2(PRDM8):c.1634T>C (p.Leu545Pro) rs2109880158
NM_001099403.2(PRDM8):c.163A>G (p.Ile55Val) rs2109875752
NM_001099403.2(PRDM8):c.1646T>G (p.Leu549Arg) rs1414709299
NM_001099403.2(PRDM8):c.1649A>C (p.Gln550Pro)
NM_001099403.2(PRDM8):c.1655C>T (p.Ala552Val) rs559909369
NM_001099403.2(PRDM8):c.1657G>A (p.Ala553Thr) rs867590589
NM_001099403.2(PRDM8):c.1693G>A (p.Gly565Ser) rs866625939
NM_001099403.2(PRDM8):c.1693GGC[5] (p.Gly568dup) rs756781919
NM_001099403.2(PRDM8):c.172A>G (p.Ile58Val)
NM_001099403.2(PRDM8):c.1736C>T (p.Thr579Ile) rs1738703576
NM_001099403.2(PRDM8):c.1739C>T (p.Ala580Val) rs1325853079
NM_001099403.2(PRDM8):c.1744T>C (p.Trp582Arg) rs1738705118
NM_001099403.2(PRDM8):c.1761_1787del (p.Ala590_Ala598del) rs750030014
NM_001099403.2(PRDM8):c.1766C>T (p.Ala589Val)
NM_001099403.2(PRDM8):c.1767_1775dup (p.Ala596_Ala598dup) rs1480528424
NM_001099403.2(PRDM8):c.1767_1787del (p.Ala592_Ala598del) rs1738710271
NM_001099403.2(PRDM8):c.1770_1781dup (p.Ala595_Ala598dup) rs1044242742
NM_001099403.2(PRDM8):c.1777G>C (p.Ala593Pro) rs1461303254
NM_001099403.2(PRDM8):c.1779_1784dup (p.Ala597_Ala598dup) rs1395259146
NM_001099403.2(PRDM8):c.1782GGC[4] (p.Ala598dup) rs770253118
NM_001099403.2(PRDM8):c.1790C>T (p.Ala597Val)
NM_001099403.2(PRDM8):c.17T>A (p.Ile6Asn) rs1738314211
NM_001099403.2(PRDM8):c.1805AGCTGC[1] (p.602QL[1]) rs777876948
NM_001099403.2(PRDM8):c.1838C>G (p.Pro613Arg) rs1553906552
NM_001099403.2(PRDM8):c.1871A>C (p.Gln624Pro)
NM_001099403.2(PRDM8):c.1874A>G (p.Asn625Ser) rs1738732855
NM_001099403.2(PRDM8):c.1897T>G (p.Ser633Ala) rs2109880734
NM_001099403.2(PRDM8):c.192C>A (p.Asp64Glu) rs1353802596
NM_001099403.2(PRDM8):c.1951_1952delinsAT (p.Glu651Met) rs1578268165
NM_001099403.2(PRDM8):c.1967C>T (p.Pro656Leu) rs780244125
NM_001099403.2(PRDM8):c.2057C>G (p.Thr686Ser) rs1560481395
NM_001099403.2(PRDM8):c.2060C>G (p.Ser687Trp) rs2109880891
NM_001099403.2(PRDM8):c.34G>A (p.Asp12Asn) rs768984964
NM_001099403.2(PRDM8):c.36T>G (p.Asp12Glu)
NM_001099403.2(PRDM8):c.581G>A (p.Gly194Asp)
NM_001099403.2(PRDM8):c.589G>T (p.Val197Leu) rs1578262845
NM_001099403.2(PRDM8):c.58C>A (p.Gln20Lys) rs766294833
NM_001099403.2(PRDM8):c.593G>A (p.Gly198Asp) rs776620537
NM_001099403.2(PRDM8):c.611G>A (p.Gly204Asp) rs2109878137
NM_001099403.2(PRDM8):c.612CGG[5] (p.Gly209dup) rs769029025
NM_001099403.2(PRDM8):c.620G>A (p.Gly207Asp) rs764059996
NM_001099403.2(PRDM8):c.634CAG[7] (p.Gln217dup) rs748593482
NM_001099403.2(PRDM8):c.649C>A (p.Gln217Lys)
NM_001099403.2(PRDM8):c.649C>G (p.Gln217Glu)
NM_001099403.2(PRDM8):c.658C>T (p.Pro220Ser) rs1738523106
NM_001099403.2(PRDM8):c.687A>C (p.Lys229Asn) rs1553905669
NM_001099403.2(PRDM8):c.710C>T (p.Pro237Leu) rs1738530929
NM_001099403.2(PRDM8):c.715C>A (p.Pro239Thr) rs760107518
NM_001099403.2(PRDM8):c.728G>T (p.Ser243Ile) rs764408979
NM_001099403.2(PRDM8):c.736C>A (p.Pro246Thr) rs1330185577
NM_001099403.2(PRDM8):c.736C>T (p.Pro246Ser) rs1330185577
NM_001099403.2(PRDM8):c.740C>G (p.Ser247Cys) rs781560136
NM_001099403.2(PRDM8):c.761G>C (p.Ser254Thr) rs1738540197
NM_001099403.2(PRDM8):c.796A>T (p.Arg266Trp)
NM_001099403.2(PRDM8):c.850_861del (p.Ser284_Ser287del) rs1455395711
NM_001099403.2(PRDM8):c.859AGCGGC[1] (p.285SG[2]) rs763199170
NM_001099403.2(PRDM8):c.85G>A (p.Val29Ile)
NM_001099403.2(PRDM8):c.865_873dup (p.Gly291_Gly292insSerGlyGly)
NM_001099403.2(PRDM8):c.865_876dup (p.Ser289_Gly292dup) rs771118168
NM_001099403.2(PRDM8):c.868GGC[2] (p.Gly292_Gly294del) rs752636419
NM_001099403.2(PRDM8):c.868GGC[6] (p.Gly294dup) rs752636419
NM_001099403.2(PRDM8):c.868GGC[7] (p.Gly293_Gly294dup) rs752636419
NM_001099403.2(PRDM8):c.868GGC[8] (p.Gly292_Gly294dup) rs752636419
NM_001099403.2(PRDM8):c.877G>A (p.Gly293Ser) rs1738555644
NM_001099403.2(PRDM8):c.880G>T (p.Gly294Cys) rs1738555862
NM_001099403.2(PRDM8):c.886C>T (p.Gln296Ter)
NM_001099403.2(PRDM8):c.895G>C (p.Glu299Gln) rs1294279847
NM_001099403.2(PRDM8):c.901A>G (p.Ser301Gly) rs2109878731
NM_001099403.2(PRDM8):c.904C>A (p.Pro302Thr) rs1357775685

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