ClinVar Miner

List of variants reported as uncertain significance for Epilepsy, familial focal, with variable foci 3

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 398
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HGVS dbSNP gnomAD frequency
NM_001077350.3(NPRL3):c.1268C>T (p.Pro423Leu) rs200792895 0.00031
NM_001077350.3(NPRL3):c.442C>T (p.Arg148Cys) rs201069648 0.00029
NM_001077350.3(NPRL3):c.745G>A (p.Glu249Lys) rs200041907 0.00026
NM_001077350.3(NPRL3):c.251T>G (p.Phe84Cys) rs560167568 0.00014
NM_001077350.3(NPRL3):c.597G>C (p.Lys199Asn) rs186859701 0.00014
NM_001077350.3(NPRL3):c.439C>T (p.Arg147Cys) rs202129021 0.00012
NM_001077350.3(NPRL3):c.997G>A (p.Val333Ile) rs367664536 0.00012
NM_001077350.3(NPRL3):c.14C>T (p.Thr5Ile) rs776554504 0.00011
NM_001077350.3(NPRL3):c.1297C>T (p.Arg433Trp) rs372094629 0.00009
NM_001077350.3(NPRL3):c.275G>A (p.Arg92Gln) rs367729589 0.00007
NM_001077350.3(NPRL3):c.1298G>A (p.Arg433Gln) rs781225056 0.00006
NM_001077350.3(NPRL3):c.1402G>A (p.Ala468Thr) rs752246132 0.00006
NM_001077350.3(NPRL3):c.1420G>A (p.Gly474Arg) rs374687256 0.00006
NM_001077350.3(NPRL3):c.1567C>T (p.Arg523Cys) rs189283988 0.00006
NM_001077350.3(NPRL3):c.466G>A (p.Glu156Lys) rs374060440 0.00006
NM_001077350.3(NPRL3):c.630-19C>G rs753781901 0.00006
NM_001077350.3(NPRL3):c.653G>A (p.Arg218Gln) rs201341279 0.00006
NM_001077350.3(NPRL3):c.1085C>T (p.Pro362Leu) rs763923760 0.00005
NM_001077350.3(NPRL3):c.1226A>G (p.Tyr409Cys) rs775053528 0.00005
NM_001077350.3(NPRL3):c.1252G>A (p.Glu418Lys) rs547498080 0.00005
NM_001077350.3(NPRL3):c.1678G>T (p.Val560Phe) rs752181668 0.00005
NM_001077350.3(NPRL3):c.1309C>T (p.Arg437Cys) rs530150587 0.00004
NM_001077350.3(NPRL3):c.286C>T (p.His96Tyr) rs374486402 0.00004
NM_001077350.3(NPRL3):c.515C>T (p.Ala172Val) rs778177582 0.00004
NM_001077350.3(NPRL3):c.636C>G (p.Cys212Trp) rs769173039 0.00004
NM_001077350.3(NPRL3):c.943C>T (p.His315Tyr) rs772044858 0.00004
NM_001077350.3(NPRL3):c.1145C>T (p.Ala382Val) rs375562061 0.00003
NM_001077350.3(NPRL3):c.1202G>A (p.Arg401Gln) rs868451771 0.00003
NM_001077350.3(NPRL3):c.125C>T (p.Pro42Leu) rs762676113 0.00003
NM_001077350.3(NPRL3):c.1264C>T (p.Arg422Cys) rs753763592 0.00003
NM_001077350.3(NPRL3):c.1562G>A (p.Arg521His) rs758488510 0.00003
NM_001077350.3(NPRL3):c.1643G>A (p.Arg548His) rs367598130 0.00003
NM_001077350.3(NPRL3):c.1707_1708del (p.Ter570SerextTer?) rs756232589 0.00003
NM_001077350.3(NPRL3):c.181G>A (p.Asp61Asn) rs748391280 0.00003
NM_001077350.3(NPRL3):c.563A>G (p.Gln188Arg) rs191687929 0.00003
NM_001077350.3(NPRL3):c.641C>T (p.Ser214Leu) rs556232826 0.00003
NM_001077350.3(NPRL3):c.767+6T>C rs745822946 0.00003
NM_001077350.3(NPRL3):c.1048G>A (p.Glu350Lys) rs761443880 0.00002
NM_001077350.3(NPRL3):c.1199G>A (p.Arg400His) rs535478389 0.00002
NM_001077350.3(NPRL3):c.1265G>A (p.Arg422His) rs765841003 0.00002
NM_001077350.3(NPRL3):c.127C>T (p.Arg43Cys) rs770318147 0.00002
NM_001077350.3(NPRL3):c.1282G>A (p.Val428Ile) rs771113936 0.00002
NM_001077350.3(NPRL3):c.1306G>A (p.Gly436Ser) rs548390527 0.00002
NM_001077350.3(NPRL3):c.1330G>A (p.Ala444Thr) rs368198378 0.00002
NM_001077350.3(NPRL3):c.1448C>T (p.Thr483Met) rs1055200832 0.00002
NM_001077350.3(NPRL3):c.1484G>A (p.Arg495His) rs750844568 0.00002
NM_001077350.3(NPRL3):c.1531C>T (p.Arg511Cys) rs747602641 0.00002
NM_001077350.3(NPRL3):c.318+3A>T rs746765533 0.00002
NM_001077350.3(NPRL3):c.428A>G (p.His143Arg) rs959374963 0.00002
NM_001077350.3(NPRL3):c.470A>G (p.Glu157Gly) rs762922931 0.00002
NM_001077350.3(NPRL3):c.5G>C (p.Arg2Pro) rs752487586 0.00002
NM_001077350.3(NPRL3):c.755T>C (p.Leu252Pro) rs747035776 0.00002
NM_001077350.3(NPRL3):c.769C>G (p.Pro257Ala) rs746568841 0.00002
NM_001077350.3(NPRL3):c.905C>T (p.Ala302Val) rs777790535 0.00002
NM_001077350.3(NPRL3):c.958G>A (p.Gly320Ser) rs375417903 0.00002
NM_001077350.3(NPRL3):c.1032G>A (p.Leu344=) rs745938544 0.00001
NM_001077350.3(NPRL3):c.1039C>T (p.Pro347Ser) rs765599501 0.00001
NM_001077350.3(NPRL3):c.1073C>T (p.Ser358Phe) rs1039004556 0.00001
NM_001077350.3(NPRL3):c.1090G>A (p.Val364Ile) rs769246932 0.00001
NM_001077350.3(NPRL3):c.1100A>G (p.Lys367Arg) rs776081581 0.00001
NM_001077350.3(NPRL3):c.1112C>T (p.Pro371Leu) rs747324879 0.00001
NM_001077350.3(NPRL3):c.1150G>A (p.Ala384Thr) rs751307143 0.00001
NM_001077350.3(NPRL3):c.1165C>A (p.Gln389Lys) rs1331117963 0.00001
NM_001077350.3(NPRL3):c.117A>G (p.Thr39=) rs764156867 0.00001
NM_001077350.3(NPRL3):c.118A>G (p.Ser40Gly) rs1901205892 0.00001
NM_001077350.3(NPRL3):c.1198C>T (p.Arg400Cys) rs556683821 0.00001
NM_001077350.3(NPRL3):c.1201C>T (p.Arg401Trp) rs375530015 0.00001
NM_001077350.3(NPRL3):c.1204C>T (p.Leu402Phe) rs899497821 0.00001
NM_001077350.3(NPRL3):c.1215G>C (p.Gln405His) rs1426917813 0.00001
NM_001077350.3(NPRL3):c.1243T>C (p.Ser415Pro) rs546525405 0.00001
NM_001077350.3(NPRL3):c.1247C>T (p.Pro416Leu) rs746082270 0.00001
NM_001077350.3(NPRL3):c.1279G>A (p.Asp427Asn) rs769778379 0.00001
NM_001077350.3(NPRL3):c.1313G>A (p.Ser438Asn) rs529009740 0.00001
NM_001077350.3(NPRL3):c.1315C>T (p.Leu439Phe) rs763320453 0.00001
NM_001077350.3(NPRL3):c.1324C>T (p.Pro442Ser) rs868572770 0.00001
NM_001077350.3(NPRL3):c.1348C>T (p.Pro450Ser) rs941137627 0.00001
NM_001077350.3(NPRL3):c.139G>A (p.Ala47Thr) rs1401901852 0.00001
NM_001077350.3(NPRL3):c.1427C>T (p.Ser476Leu) rs750482582 0.00001
NM_001077350.3(NPRL3):c.1443G>T (p.Arg481Ser) rs1898620865 0.00001
NM_001077350.3(NPRL3):c.1483C>T (p.Arg495Cys) rs756589112 0.00001
NM_001077350.3(NPRL3):c.1507G>A (p.Ala503Thr) rs372717858 0.00001
NM_001077350.3(NPRL3):c.152C>T (p.Thr51Met) rs777208794 0.00001
NM_001077350.3(NPRL3):c.1532G>A (p.Arg511His) rs375305549 0.00001
NM_001077350.3(NPRL3):c.1534A>G (p.Met512Val) rs768263296 0.00001
NM_001077350.3(NPRL3):c.1561C>T (p.Arg521Cys) rs1305476231 0.00001
NM_001077350.3(NPRL3):c.1564G>A (p.Gly522Ser) rs752985390 0.00001
NM_001077350.3(NPRL3):c.1595A>G (p.Asn532Ser) rs371517875 0.00001
NM_001077350.3(NPRL3):c.164C>G (p.Ala55Gly) rs1217583836 0.00001
NM_001077350.3(NPRL3):c.1669G>A (p.Glu557Lys) rs764005661 0.00001
NM_001077350.3(NPRL3):c.1687G>A (p.Val563Ile) rs764756422 0.00001
NM_001077350.3(NPRL3):c.17G>A (p.Ser6Asn) rs1901212695 0.00001
NM_001077350.3(NPRL3):c.20C>T (p.Pro7Leu) rs770799124 0.00001
NM_001077350.3(NPRL3):c.217T>G (p.Leu73Val) rs1900182866 0.00001
NM_001077350.3(NPRL3):c.341C>T (p.Pro114Leu) rs979345384 0.00001
NM_001077350.3(NPRL3):c.400G>A (p.Ala134Thr) rs779581743 0.00001
NM_001077350.3(NPRL3):c.407C>T (p.Pro136Leu) rs547462000 0.00001
NM_001077350.3(NPRL3):c.454G>A (p.Val152Met) rs539649449 0.00001
NM_001077350.3(NPRL3):c.473G>A (p.Arg158His) rs1215682749 0.00001
NM_001077350.3(NPRL3):c.475C>T (p.Arg159Cys) rs769300436 0.00001
NM_001077350.3(NPRL3):c.476G>A (p.Arg159His) rs370299128 0.00001
NM_001077350.3(NPRL3):c.535G>A (p.Ala179Thr) rs755120736 0.00001
NM_001077350.3(NPRL3):c.638C>T (p.Thr213Met) rs776199294 0.00001
NM_001077350.3(NPRL3):c.713C>T (p.Ala238Val) rs761366554 0.00001
NM_001077350.3(NPRL3):c.722G>C (p.Ser241Thr) rs1899228613 0.00001
NM_001077350.3(NPRL3):c.734C>A (p.Pro245Gln) rs763479734 0.00001
NM_001077350.3(NPRL3):c.748C>T (p.Arg250Trp) rs577935445 0.00001
NM_001077350.3(NPRL3):c.752G>A (p.Ser251Asn) rs916257624 0.00001
NM_001077350.3(NPRL3):c.811C>G (p.Leu271Val) rs984688777 0.00001
NM_001077350.3(NPRL3):c.826A>G (p.Ile276Val) rs764890667 0.00001
NM_001077350.3(NPRL3):c.85C>A (p.Gln29Lys) rs1021394339 0.00001
NC_000016.10:g.(?_86685)_(86890_?)del
NC_000016.10:g.(?_86685)_(86890_?)dup
NC_000016.9:g.(?_136684)_(139920_?)dup
NC_000016.9:g.(?_136684)_(143343_?)del
NC_000016.9:g.(?_136684)_(160624_?)dup
NC_000016.9:g.(?_136684)_(188286_?)dup
NC_000016.9:g.(?_136704)_(136889_?)del
NC_000016.9:g.(?_136704)_(139920_?)dup
NC_000016.9:g.(?_136704)_(160624_?)dup
NC_000016.9:g.(?_136704)_(169274_?)dup
NC_000016.9:g.(?_136704)_(188266_?)dup
NC_000016.9:g.(?_138677)_(150527_?)dup
NC_000016.9:g.(?_148123)_(163851_?)dup
NC_000016.9:g.(?_148123)_(167394_?)dup
NC_000016.9:g.(?_148123)_(188266_?)dup
NC_000016.9:g.(?_148123)_(193701_?)dup
NC_000016.9:g.(?_148291)_(178264_?)dup
NC_000016.9:g.(?_150350)_(150527_?)dup
NC_000016.9:g.(?_150350)_(169274_?)dup
NC_000016.9:g.(?_150360)_(150517_?)dup
NC_000016.9:g.(?_150360)_(169264_?)dup
NC_000016.9:g.(?_160503)_(169274_?)del
NC_000016.9:g.(?_160503)_(169274_?)dup
NC_000016.9:g.(?_160503)_(188266_?)dup
NC_000016.9:g.(?_160503)_(188286_?)dup
NC_000016.9:g.(?_160503)_(193701_?)dup
NC_000016.9:g.(?_160513)_(188266_?)dup
NC_000016.9:g.(?_162601)_(188266_?)dup
NC_000016.9:g.(?_167280)_(167394_?)del
NC_000016.9:g.(?_167280)_(188286_?)dup
NC_000016.9:g.(?_167280)_(193701_?)dup
NC_000016.9:g.(?_180501)_(188266_?)dup
NC_000016.9:g.(?_180501)_(188286_?)dup
NC_000016.9:g.(?_180501)_(193701_?)dup
NC_000016.9:g.(?_188129)_(188286_?)dup
NC_000016.9:g.(?_97132)_(148319_?)dup
NM_001077350.3(NPRL3):c.1003A>T (p.Met335Leu) rs1405349026
NM_001077350.3(NPRL3):c.1015A>G (p.Asn339Asp)
NM_001077350.3(NPRL3):c.1024G>A (p.Val342Ile) rs11558704
NM_001077350.3(NPRL3):c.1024G>C (p.Val342Leu)
NM_001077350.3(NPRL3):c.1031+5G>A
NM_001077350.3(NPRL3):c.1031+7G>A
NM_001077350.3(NPRL3):c.1032G>T (p.Leu344=)
NM_001077350.3(NPRL3):c.1040C>T (p.Pro347Leu)
NM_001077350.3(NPRL3):c.1045G>T (p.Ala349Ser) rs1388346755
NM_001077350.3(NPRL3):c.1053G>C (p.Gln351His) rs2141907979
NM_001077350.3(NPRL3):c.1062C>A (p.His354Gln) rs1898813434
NM_001077350.3(NPRL3):c.1068C>G (p.Phe356Leu) rs1229321872
NM_001077350.3(NPRL3):c.107C>T (p.Ala36Val)
NM_001077350.3(NPRL3):c.1092T>G (p.Val364=)
NM_001077350.3(NPRL3):c.1106C>G (p.Ser369Cys) rs1050077507
NM_001077350.3(NPRL3):c.1111_1122dup (p.Pro371_Leu374dup) rs780621579
NM_001077350.3(NPRL3):c.1120T>C (p.Leu374=)
NM_001077350.3(NPRL3):c.1121T>C (p.Leu374Ser)
NM_001077350.3(NPRL3):c.1148C>G (p.Pro383Arg) rs1898807635
NM_001077350.3(NPRL3):c.1153G>A (p.Val385Met) rs1898807118
NM_001077350.3(NPRL3):c.1156C>G (p.Gln386Glu)
NM_001077350.3(NPRL3):c.1161+15C>A
NM_001077350.3(NPRL3):c.1161+5G>A
NM_001077350.3(NPRL3):c.1161+6T>C
NM_001077350.3(NPRL3):c.1162-4G>C rs539175375
NM_001077350.3(NPRL3):c.116C>A (p.Thr39Lys)
NM_001077350.3(NPRL3):c.118+11G>T
NM_001077350.3(NPRL3):c.118+16G>T
NM_001077350.3(NPRL3):c.118+18G>C
NM_001077350.3(NPRL3):c.118+3_118+6del rs1312109237
NM_001077350.3(NPRL3):c.118+6T>C
NM_001077350.3(NPRL3):c.1180GTG[1] (p.Val395del) rs992225807
NM_001077350.3(NPRL3):c.119-3C>G rs1900744785
NM_001077350.3(NPRL3):c.1191G>A (p.Met397Ile)
NM_001077350.3(NPRL3):c.1198C>A (p.Arg400Ser) rs556683821
NM_001077350.3(NPRL3):c.119G>A (p.Ser40Asn)
NM_001077350.3(NPRL3):c.119G>C (p.Ser40Thr) rs1277893899
NM_001077350.3(NPRL3):c.11A>C (p.Asn4Thr)
NM_001077350.3(NPRL3):c.11A>G (p.Asn4Ser) rs759212295
NM_001077350.3(NPRL3):c.1205T>C (p.Leu402Pro)
NM_001077350.3(NPRL3):c.1208T>C (p.Leu403Pro) rs2141902503
NM_001077350.3(NPRL3):c.1211T>G (p.Ile404Ser)
NM_001077350.3(NPRL3):c.121A>G (p.Lys41Glu) rs1299719512
NM_001077350.3(NPRL3):c.1221C>T (p.His407=)
NM_001077350.3(NPRL3):c.1223C>T (p.Thr408Ile) rs762208602
NM_001077350.3(NPRL3):c.1237A>G (p.Met413Val) rs749424318
NM_001077350.3(NPRL3):c.1239G>A (p.Met413Ile) rs1057524503
NM_001077350.3(NPRL3):c.1247C>G (p.Pro416Arg) rs746082270
NM_001077350.3(NPRL3):c.1252GAG[2] (p.Glu420del) rs765072700
NM_001077350.3(NPRL3):c.1258G>C (p.Glu420Gln)
NM_001077350.3(NPRL3):c.1261_1281dup (p.Pro421_Asp427dup) rs2141902200
NM_001077350.3(NPRL3):c.1270C>A (p.Arg424=)
NM_001077350.3(NPRL3):c.1271G>A (p.Arg424Gln)
NM_001077350.3(NPRL3):c.128G>A (p.Arg43His) rs376476299
NM_001077350.3(NPRL3):c.128G>C (p.Arg43Pro) rs376476299
NM_001077350.3(NPRL3):c.128G>T (p.Arg43Leu) rs376476299
NM_001077350.3(NPRL3):c.1291A>T (p.Thr431Ser) rs2141902154
NM_001077350.3(NPRL3):c.1298G>C (p.Arg433Pro) rs781225056
NM_001077350.3(NPRL3):c.1302C>G (p.Val434=)
NM_001077350.3(NPRL3):c.1307G>T (p.Gly436Val) rs767317111
NM_001077350.3(NPRL3):c.1310G>A (p.Arg437His)
NM_001077350.3(NPRL3):c.1314C>A (p.Ser438Arg) rs1336372042
NM_001077350.3(NPRL3):c.1315C>A (p.Leu439Ile)
NM_001077350.3(NPRL3):c.1322C>T (p.Thr441Met) rs776673140
NM_001077350.3(NPRL3):c.1334T>C (p.Leu445Pro)
NM_001077350.3(NPRL3):c.1347C>T (p.Ser449=)
NM_001077350.3(NPRL3):c.1351+16C>T
NM_001077350.3(NPRL3):c.1351+19C>G
NM_001077350.3(NPRL3):c.1351+3A>G
NM_001077350.3(NPRL3):c.1352-5C>A rs745831986
NM_001077350.3(NPRL3):c.1359C>T (p.Ser453=) rs756373989
NM_001077350.3(NPRL3):c.1360G>A (p.Asp454Asn)
NM_001077350.3(NPRL3):c.1368G>A (p.Met456Ile)
NM_001077350.3(NPRL3):c.1368G>T (p.Met456Ile)
NM_001077350.3(NPRL3):c.136T>C (p.Tyr46His)
NM_001077350.3(NPRL3):c.1374C>T (p.Leu458=)
NM_001077350.3(NPRL3):c.1392C>A (p.Asp464Glu)
NM_001077350.3(NPRL3):c.139G>T (p.Ala47Ser) rs1401901852
NM_001077350.3(NPRL3):c.1421G>C (p.Gly474Ala)
NM_001077350.3(NPRL3):c.1430C>T (p.Pro477Leu) rs2141899988
NM_001077350.3(NPRL3):c.1433T>G (p.Leu478Arg) rs774394208
NM_001077350.3(NPRL3):c.1437C>G (p.Asn479Lys) rs2141899969
NM_001077350.3(NPRL3):c.1455C>A (p.Asn485Lys)
NM_001077350.3(NPRL3):c.1492A>G (p.Ile498Val) rs1898614224
NM_001077350.3(NPRL3):c.1492_1512del (p.Ile498_Ala504del) rs2141899739
NM_001077350.3(NPRL3):c.14C>A (p.Thr5Asn) rs776554504
NM_001077350.3(NPRL3):c.1505C>T (p.Pro502Leu)
NM_001077350.3(NPRL3):c.1510G>T (p.Ala504Ser)
NM_001077350.3(NPRL3):c.1528C>A (p.Leu510Ile) rs2141899710
NM_001077350.3(NPRL3):c.1542C>A (p.Ala514=)
NM_001077350.3(NPRL3):c.1544+3_1544+5del rs1898611086
NM_001077350.3(NPRL3):c.1545G>A (p.Arg515=) rs2141895127
NM_001077350.3(NPRL3):c.1557C>G (p.Tyr519Ter) rs2141895094
NM_001077350.3(NPRL3):c.1558T>C (p.Phe520Leu)
NM_001077350.3(NPRL3):c.1559dup (p.Arg521fs) rs2141895084
NM_001077350.3(NPRL3):c.1561del (p.Arg521fs) rs1596492194
NM_001077350.3(NPRL3):c.1565del (p.Gly522fs)
NM_001077350.3(NPRL3):c.1567C>A (p.Arg523Ser) rs189283988
NM_001077350.3(NPRL3):c.1567del (p.Arg523fs)
NM_001077350.3(NPRL3):c.1574A>T (p.His525Leu) rs1898496064
NM_001077350.3(NPRL3):c.1576C>T (p.Leu526=)
NM_001077350.3(NPRL3):c.1579GAG[1] (p.Glu528del) rs2141894975
NM_001077350.3(NPRL3):c.1583A>G (p.Glu528Gly)
NM_001077350.3(NPRL3):c.1586T>G (p.Ile529Ser)
NM_001077350.3(NPRL3):c.1589T>C (p.Met530Thr) rs1453118437
NM_001077350.3(NPRL3):c.1590G>C (p.Met530Ile) rs2141894953
NM_001077350.3(NPRL3):c.1597G>A (p.Glu533Lys)
NM_001077350.3(NPRL3):c.1597G>C (p.Glu533Gln)
NM_001077350.3(NPRL3):c.1604C>T (p.Thr535Met)
NM_001077350.3(NPRL3):c.1609C>T (p.Arg537Cys)
NM_001077350.3(NPRL3):c.1609_1610delinsTC (p.Arg537Ser)
NM_001077350.3(NPRL3):c.1610G>A (p.Arg537His) rs771288626
NM_001077350.3(NPRL3):c.1618_1629del (p.Leu540_Leu543del) rs2141894817
NM_001077350.3(NPRL3):c.161A>G (p.His54Arg) rs1900741473
NM_001077350.3(NPRL3):c.1628T>C (p.Leu543Pro) rs2141894824
NM_001077350.3(NPRL3):c.1642C>T (p.Arg548Cys)
NM_001077350.3(NPRL3):c.1643G>T (p.Arg548Leu)
NM_001077350.3(NPRL3):c.1645A>G (p.Ser549Gly) rs537555038
NM_001077350.3(NPRL3):c.1647C>A (p.Ser549Arg) rs1191944943
NM_001077350.3(NPRL3):c.1647C>G (p.Ser549Arg)
NM_001077350.3(NPRL3):c.1648G>A (p.Val550Met) rs188724206
NM_001077350.3(NPRL3):c.1648G>C (p.Val550Leu) rs188724206
NM_001077350.3(NPRL3):c.1648G>T (p.Val550Leu) rs188724206
NM_001077350.3(NPRL3):c.1654del (p.Val552fs)
NM_001077350.3(NPRL3):c.1666del (p.His556fs) rs2141894715
NM_001077350.3(NPRL3):c.1667A>C (p.His556Pro) rs1898489910
NM_001077350.3(NPRL3):c.1673A>G (p.Asp558Gly)
NM_001077350.3(NPRL3):c.1682T>C (p.Ile561Thr) rs1898488842
NM_001077350.3(NPRL3):c.1699C>G (p.Leu567Val)
NM_001077350.3(NPRL3):c.169G>A (p.Glu57Lys) rs907712162
NM_001077350.3(NPRL3):c.1708T>C (p.Ter570Arg)
NM_001077350.3(NPRL3):c.173A>C (p.Gln58Pro)
NM_001077350.3(NPRL3):c.177C>A (p.Asp59Glu) rs1048069050
NM_001077350.3(NPRL3):c.178G>A (p.Gly60Ser)
NM_001077350.3(NPRL3):c.187_188del (p.Arg63fs)
NM_001077350.3(NPRL3):c.188+5A>C
NM_001077350.3(NPRL3):c.188+5A>G
NM_001077350.3(NPRL3):c.189-3A>G rs1900184532
NM_001077350.3(NPRL3):c.189G>A (p.Arg63=)
NM_001077350.3(NPRL3):c.19C>A (p.Pro7Thr) rs1901212556
NM_001077350.3(NPRL3):c.224C>T (p.Thr75Ile)
NM_001077350.3(NPRL3):c.227A>C (p.Lys76Thr) rs1900182442
NM_001077350.3(NPRL3):c.236T>C (p.Met79Thr)
NM_001077350.3(NPRL3):c.242G>A (p.Gly81Asp)
NM_001077350.3(NPRL3):c.25A>G (p.Ser9Gly) rs760236969
NM_001077350.3(NPRL3):c.269A>G (p.Asn90Ser)
NM_001077350.3(NPRL3):c.283G>C (p.Gly95Arg)
NM_001077350.3(NPRL3):c.289C>G (p.Pro97Ala)
NM_001077350.3(NPRL3):c.292A>G (p.Thr98Ala) rs1900178756
NM_001077350.3(NPRL3):c.293C>T (p.Thr98Ile) rs1596528750
NM_001077350.3(NPRL3):c.298C>G (p.Leu100Val) rs1900178162
NM_001077350.3(NPRL3):c.310C>A (p.Leu104Met) rs1900177602
NM_001077350.3(NPRL3):c.318+11C>A
NM_001077350.3(NPRL3):c.318+3A>G rs746765533
NM_001077350.3(NPRL3):c.319-10T>A rs1900090284
NM_001077350.3(NPRL3):c.377T>C (p.Val126Ala) rs1024335545
NM_001077350.3(NPRL3):c.377T>G (p.Val126Gly) rs1024335545
NM_001077350.3(NPRL3):c.393+3G>C rs1567141885
NM_001077350.3(NPRL3):c.393+4_393+7del rs757371554
NM_001077350.3(NPRL3):c.393+5G>A
NM_001077350.3(NPRL3):c.394-16_394-15delinsTT
NM_001077350.3(NPRL3):c.394-1747del rs2141952986
NM_001077350.3(NPRL3):c.394G>A (p.Ala132Thr) rs1899875190
NM_001077350.3(NPRL3):c.400G>T (p.Ala134Ser)
NM_001077350.3(NPRL3):c.406C>T (p.Pro136Ser)
NM_001077350.3(NPRL3):c.407C>A (p.Pro136Gln) rs547462000
NM_001077350.3(NPRL3):c.427C>T (p.His143Tyr) rs764927474
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro) rs1899872500
NM_001077350.3(NPRL3):c.439C>G (p.Arg147Gly)
NM_001077350.3(NPRL3):c.440G>A (p.Arg147His) rs1470285968
NM_001077350.3(NPRL3):c.451A>G (p.Thr151Ala) rs1899870989
NM_001077350.3(NPRL3):c.458T>G (p.Leu153Arg)
NM_001077350.3(NPRL3):c.465C>G (p.His155Gln) rs774187145
NM_001077350.3(NPRL3):c.472C>A (p.Arg158Ser)
NM_001077350.3(NPRL3):c.472C>T (p.Arg158Cys)
NM_001077350.3(NPRL3):c.488_490dup (p.Leu163_Thr164insIle)
NM_001077350.3(NPRL3):c.491C>G (p.Thr164Ser)
NM_001077350.3(NPRL3):c.494G>A (p.Arg165Gln)
NM_001077350.3(NPRL3):c.500C>T (p.Ala167Val)
NM_001077350.3(NPRL3):c.529G>T (p.Val177Leu)
NM_001077350.3(NPRL3):c.542C>T (p.Ala181Val) rs1452724103
NM_001077350.3(NPRL3):c.547+20A>T
NM_001077350.3(NPRL3):c.548-3T>C
NM_001077350.3(NPRL3):c.548-7C>T
NM_001077350.3(NPRL3):c.553G>C (p.Glu185Gln)
NM_001077350.3(NPRL3):c.556G>C (p.Gly186Arg) rs2141946228
NM_001077350.3(NPRL3):c.559C>T (p.Pro187Ser) rs1899761608
NM_001077350.3(NPRL3):c.566C>A (p.Ser189Tyr)
NM_001077350.3(NPRL3):c.568C>T (p.Pro190Ser)
NM_001077350.3(NPRL3):c.569C>T (p.Pro190Leu)
NM_001077350.3(NPRL3):c.577C>T (p.His193Tyr) rs1367511037
NM_001077350.3(NPRL3):c.593G>T (p.Cys198Phe)
NM_001077350.3(NPRL3):c.608A>C (p.Asp203Ala) rs1899757551
NM_001077350.3(NPRL3):c.610C>T (p.Leu204Phe)
NM_001077350.3(NPRL3):c.614A>T (p.Lys205Met)
NM_001077350.3(NPRL3):c.629+3A>G
NM_001077350.3(NPRL3):c.629+4A>G rs1220187651
NM_001077350.3(NPRL3):c.629+5G>A rs2141946040
NM_001077350.3(NPRL3):c.629+8A>G
NM_001077350.3(NPRL3):c.630-3C>G rs2141925516
NM_001077350.3(NPRL3):c.64C>G (p.Leu22Val)
NM_001077350.3(NPRL3):c.653G>C (p.Arg218Pro) rs201341279
NM_001077350.3(NPRL3):c.667A>G (p.Ser223Gly)
NM_001077350.3(NPRL3):c.685T>C (p.Phe229Leu) rs1899232122
NM_001077350.3(NPRL3):c.686_688del (p.Phe229del)
NM_001077350.3(NPRL3):c.691_717del (p.Leu231_Ala239del) rs1300716374
NM_001077350.3(NPRL3):c.696C>G (p.Pro232=)
NM_001077350.3(NPRL3):c.700A>G (p.Lys234Glu) rs1899230843
NM_001077350.3(NPRL3):c.730C>T (p.Pro244Ser) rs1225559784
NM_001077350.3(NPRL3):c.737A>G (p.Glu246Gly)
NM_001077350.3(NPRL3):c.73A>G (p.Arg25Gly)
NM_001077350.3(NPRL3):c.744C>G (p.Ile248Met) rs375592476
NM_001077350.3(NPRL3):c.747A>T (p.Glu249Asp) rs2141925147
NM_001077350.3(NPRL3):c.749G>A (p.Arg250Gln) rs947759739
NM_001077350.3(NPRL3):c.74G>C (p.Arg25Thr) rs1901209994
NM_001077350.3(NPRL3):c.74G>T (p.Arg25Met) rs1901209994
NM_001077350.3(NPRL3):c.750G>A (p.Arg250=)
NM_001077350.3(NPRL3):c.760G>A (p.Ala254Thr)
NM_001077350.3(NPRL3):c.761C>T (p.Ala254Val) rs1899225654
NM_001077350.3(NPRL3):c.766C>T (p.Arg256Cys) rs779688768
NM_001077350.3(NPRL3):c.768-2del rs1899110688
NM_001077350.3(NPRL3):c.768-6T>C
NM_001077350.3(NPRL3):c.772T>G (p.Tyr258Asp)
NM_001077350.3(NPRL3):c.775C>T (p.His259Tyr)
NM_001077350.3(NPRL3):c.776A>G (p.His259Arg) rs1899109777
NM_001077350.3(NPRL3):c.782T>C (p.Leu261Pro) rs1899109340
NM_001077350.3(NPRL3):c.795T>G (p.Ser265Arg)
NM_001077350.3(NPRL3):c.804G>C (p.Lys268Asn)
NM_001077350.3(NPRL3):c.812T>C (p.Leu271Pro)
NM_001077350.3(NPRL3):c.821T>C (p.Leu274Pro)
NM_001077350.3(NPRL3):c.832T>G (p.Cys278Gly)
NM_001077350.3(NPRL3):c.842C>T (p.Ala281Val)
NM_001077350.3(NPRL3):c.851G>A (p.Arg284Gln) rs1437185591
NM_001077350.3(NPRL3):c.860A>C (p.Lys287Thr)
NM_001077350.3(NPRL3):c.863C>T (p.Thr288Ile)
NM_001077350.3(NPRL3):c.8ACA[1] (p.Asn4del) rs2141995584
NM_001077350.3(NPRL3):c.914C>T (p.Ala305Val) rs2141920111
NM_001077350.3(NPRL3):c.924+3A>G
NM_001077350.3(NPRL3):c.924+5A>T rs1899101610
NM_001077350.3(NPRL3):c.924+9C>G
NM_001077350.3(NPRL3):c.925-3C>T rs2141909476
NM_001077350.3(NPRL3):c.925-8del rs2141909491
NM_001077350.3(NPRL3):c.925-9T>C
NM_001077350.3(NPRL3):c.92G>A (p.Ser31Asn) rs780716774
NM_001077350.3(NPRL3):c.967ATC[2] (p.Ile325del) rs1287678265
NM_001077350.3(NPRL3):c.979C>T (p.Pro327Ser) rs2141909329
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu) rs1898841618
NM_001077350.3(NPRL3):c.991AAC[1] (p.Asn332del) rs1555440242
NM_001077350.3(NPRL3):c.998T>A (p.Val333Asp)
NM_001077350.3(NPRL3):c.99G>C (p.Glu33Asp) rs2141995418
NM_001077350.3(NPRL3):c.9C>A (p.Asp3Glu)
NM_001077350.3(NPRL3):c.9C>G (p.Asp3Glu) rs1478358968

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