ClinVar Miner

List of variants in gene combination HBA-LCR, NPRL3 reported as likely benign for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 220
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HGVS dbSNP gnomAD frequency
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu) rs11558704 0.00258
NM_001077350.3(NPRL3):c.1516A>T (p.Asn506Tyr) rs202015937 0.00086
NM_001077350.3(NPRL3):c.119-13C>T rs370419688 0.00028
NM_001077350.3(NPRL3):c.630-9T>C rs374656133 0.00027
NM_001077350.3(NPRL3):c.118+11G>A rs368365304 0.00021
NM_001077350.3(NPRL3):c.1544+20T>C rs376979785 0.00021
NM_001077350.3(NPRL3):c.1107C>T (p.Ser369=) rs572375358 0.00019
NM_001077350.3(NPRL3):c.1356C>T (p.Ser452=) rs373792025 0.00016
NM_001077350.3(NPRL3):c.1197G>A (p.Gln399=) rs369473961 0.00014
NM_001077350.3(NPRL3):c.394-13C>G rs376971014 0.00014
NM_001077350.3(NPRL3):c.188+13C>T rs373318523 0.00012
NM_001077350.3(NPRL3):c.225C>G (p.Thr75=) rs372639365 0.00012
NM_001077350.3(NPRL3):c.997G>A (p.Val333Ile) rs367664536 0.00012
NM_001077350.3(NPRL3):c.1192C>T (p.Leu398=) rs575256508 0.00011
NM_001077350.3(NPRL3):c.1162-5C>T rs768868339 0.00009
NM_001077350.3(NPRL3):c.156C>T (p.Gly52=) rs369462371 0.00009
NM_001077350.3(NPRL3):c.1329C>T (p.Asn443=) rs559760517 0.00008
NM_001077350.3(NPRL3):c.119-8C>T rs536194590 0.00007
NM_001077350.3(NPRL3):c.1251C>T (p.Ser417=) rs534585670 0.00007
NM_001077350.3(NPRL3):c.1419C>T (p.Ser473=) rs571533880 0.00007
NM_001077350.3(NPRL3):c.399C>T (p.Asn133=) rs748812702 0.00007
NM_001077350.3(NPRL3):c.548-10A>T rs749419450 0.00007
NM_001077350.3(NPRL3):c.1086G>A (p.Pro362=) rs762516395 0.00006
NM_001077350.3(NPRL3):c.188+14G>A rs368999536 0.00006
NM_001077350.3(NPRL3):c.951G>A (p.Val317=) rs747655659 0.00006
NM_001077350.3(NPRL3):c.1149C>T (p.Pro383=) rs577949063 0.00005
NM_001077350.3(NPRL3):c.118+7G>A rs753617978 0.00005
NM_001077350.3(NPRL3):c.924+14G>A rs754657607 0.00005
NM_001077350.3(NPRL3):c.1089C>T (p.Ser363=) rs774948028 0.00004
NM_001077350.3(NPRL3):c.1212C>A (p.Ile404=) rs772565196 0.00004
NM_001077350.3(NPRL3):c.1281C>T (p.Asp427=) rs376125073 0.00004
NM_001077350.3(NPRL3):c.1449G>A (p.Thr483=) rs376164029 0.00004
NM_001077350.3(NPRL3):c.1485C>T (p.Arg495=) rs767665276 0.00004
NM_001077350.3(NPRL3):c.393+19G>C rs376254663 0.00004
NM_001077350.3(NPRL3):c.489C>A (p.Leu163=) rs376237512 0.00004
NM_001077350.3(NPRL3):c.547+16C>T rs373390759 0.00004
NM_001077350.3(NPRL3):c.64C>T (p.Leu22=) rs747813822 0.00004
NM_001077350.3(NPRL3):c.996C>T (p.Asn332=) rs368729384 0.00004
NM_001077350.3(NPRL3):c.1047C>T (p.Ala349=) rs373353333 0.00003
NM_001077350.3(NPRL3):c.1113G>C (p.Pro371=) rs148130584 0.00003
NM_001077350.3(NPRL3):c.1162-4G>A rs539175375 0.00003
NM_001077350.3(NPRL3):c.1305C>T (p.Gly435=) rs755635095 0.00003
NM_001077350.3(NPRL3):c.1401C>T (p.Ser467=) rs758047816 0.00003
NM_001077350.3(NPRL3):c.408G>A (p.Pro136=) rs757635247 0.00003
NM_001077350.3(NPRL3):c.547+9A>C rs370796954 0.00003
NM_001077350.3(NPRL3):c.639G>A (p.Thr213=) rs770198792 0.00003
NM_001077350.3(NPRL3):c.696C>T (p.Pro232=) rs368272925 0.00003
NM_001077350.3(NPRL3):c.1032-8G>A rs370350676 0.00002
NM_001077350.3(NPRL3):c.1162-1G>C rs751418986 0.00002
NM_001077350.3(NPRL3):c.119-18C>T rs1452152293 0.00002
NM_001077350.3(NPRL3):c.1323G>A (p.Thr441=) rs770952322 0.00002
NM_001077350.3(NPRL3):c.432C>T (p.Asn144=) rs371406653 0.00002
NM_001077350.3(NPRL3):c.645C>T (p.Gly215=) rs770998374 0.00002
NM_001077350.3(NPRL3):c.735A>C (p.Pro245=) rs775687534 0.00002
NM_001077350.3(NPRL3):c.88A>C (p.Arg30=) rs542337990 0.00002
NM_001077350.3(NPRL3):c.1023C>T (p.Ser341=) rs781712669 0.00001
NM_001077350.3(NPRL3):c.1031+10G>A rs554242910 0.00001
NM_001077350.3(NPRL3):c.1128A>G (p.Glu376=) rs779153012 0.00001
NM_001077350.3(NPRL3):c.1162-19C>T rs973832371 0.00001
NM_001077350.3(NPRL3):c.1170C>T (p.Leu390=) rs752646070 0.00001
NM_001077350.3(NPRL3):c.118+15G>C rs1380711428 0.00001
NM_001077350.3(NPRL3):c.118+9G>A rs766369663 0.00001
NM_001077350.3(NPRL3):c.119-4T>C rs1432084309 0.00001
NM_001077350.3(NPRL3):c.119-9C>T rs1291323858 0.00001
NM_001077350.3(NPRL3):c.1269G>A (p.Pro423=) rs762331419 0.00001
NM_001077350.3(NPRL3):c.126G>A (p.Pro42=) rs370587053 0.00001
NM_001077350.3(NPRL3):c.1351+20G>A rs1474643956 0.00001
NM_001077350.3(NPRL3):c.1352-14C>G rs772331175 0.00001
NM_001077350.3(NPRL3):c.1352-15C>T rs1017477594 0.00001
NM_001077350.3(NPRL3):c.1352-9C>A rs539074617 0.00001
NM_001077350.3(NPRL3):c.138C>T (p.Tyr46=) rs1021001959 0.00001
NM_001077350.3(NPRL3):c.1428G>A (p.Ser476=) rs370803087 0.00001
NM_001077350.3(NPRL3):c.147C>T (p.Ser49=) rs1157537547 0.00001
NM_001077350.3(NPRL3):c.1500T>C (p.Ser500=) rs1253562574 0.00001
NM_001077350.3(NPRL3):c.1506C>T (p.Pro502=) rs776547593 0.00001
NM_001077350.3(NPRL3):c.1539T>C (p.Phe513=) rs749698102 0.00001
NM_001077350.3(NPRL3):c.153G>A (p.Thr51=) rs771331057 0.00001
NM_001077350.3(NPRL3):c.1544+12T>C rs746389609 0.00001
NM_001077350.3(NPRL3):c.1544+19G>A rs758718371 0.00001
NM_001077350.3(NPRL3):c.177C>T (p.Asp59=) rs1048069050 0.00001
NM_001077350.3(NPRL3):c.198T>C (p.Asp66=) rs1900183713 0.00001
NM_001077350.3(NPRL3):c.273G>A (p.Val91=) rs1427607213 0.00001
NM_001077350.3(NPRL3):c.30G>C (p.Val10=) rs772703167 0.00001
NM_001077350.3(NPRL3):c.319-4A>G rs1033435405 0.00001
NM_001077350.3(NPRL3):c.342G>A (p.Pro114=) rs368936546 0.00001
NM_001077350.3(NPRL3):c.411A>G (p.Ser137=) rs752160458 0.00001
NM_001077350.3(NPRL3):c.52A>C (p.Arg18=) rs1218964632 0.00001
NM_001077350.3(NPRL3):c.548-16G>A rs369053251 0.00001
NM_001077350.3(NPRL3):c.548-6T>C rs780258721 0.00001
NM_001077350.3(NPRL3):c.579C>T (p.His193=) rs777493106 0.00001
NM_001077350.3(NPRL3):c.642G>A (p.Ser214=) rs368182847 0.00001
NM_001077350.3(NPRL3):c.714G>A (p.Ala238=) rs751260495 0.00001
NM_001077350.3(NPRL3):c.732C>T (p.Pro244=) rs1196165192 0.00001
NM_001077350.3(NPRL3):c.756G>A (p.Leu252=) rs554325689 0.00001
NM_001077350.3(NPRL3):c.861G>A (p.Lys287=) rs767611082 0.00001
NM_001077350.3(NPRL3):c.906G>A (p.Ala302=) rs771726316 0.00001
NM_001077350.3(NPRL3):c.946C>T (p.Leu316=) rs1472693052 0.00001
NM_001077350.3(NPRL3):c.981G>A (p.Pro327=) rs371414303 0.00001
NM_001077350.3(NPRL3):c.984G>A (p.Leu328=) rs866882831 0.00001
NM_001077350.3(NPRL3):c.1014C>T (p.Pro338=)
NM_001077350.3(NPRL3):c.1032-14T>C
NM_001077350.3(NPRL3):c.1032-20G>A rs758612387
NM_001077350.3(NPRL3):c.1032-20G>T
NM_001077350.3(NPRL3):c.1092T>C (p.Val364=)
NM_001077350.3(NPRL3):c.1104C>T (p.Phe368=) rs2141907858
NM_001077350.3(NPRL3):c.1113G>A (p.Pro371=) rs148130584
NM_001077350.3(NPRL3):c.1119C>A (p.Ser373=) rs2141907799
NM_001077350.3(NPRL3):c.111C>T (p.Ser37=) rs1555446496
NM_001077350.3(NPRL3):c.1140C>T (p.Pro380=)
NM_001077350.3(NPRL3):c.1143G>C (p.Leu381=) rs1898808230
NM_001077350.3(NPRL3):c.1149C>G (p.Pro383=) rs577949063
NM_001077350.3(NPRL3):c.1161+10A>C rs2141907621
NM_001077350.3(NPRL3):c.1161+20G>A
NM_001077350.3(NPRL3):c.1162-13C>T
NM_001077350.3(NPRL3):c.1162-18A>C
NM_001077350.3(NPRL3):c.1163C>T (p.Thr388Ile) rs758123622
NM_001077350.3(NPRL3):c.118+18_118+40del
NM_001077350.3(NPRL3):c.118+19G>C
NM_001077350.3(NPRL3):c.119-12G>A rs554836466
NM_001077350.3(NPRL3):c.119-20C>T
NM_001077350.3(NPRL3):c.119-5C>T rs1596539888
NM_001077350.3(NPRL3):c.1206T>C (p.Leu402=)
NM_001077350.3(NPRL3):c.1234C>T (p.Leu412=)
NM_001077350.3(NPRL3):c.126G>T (p.Pro42=) rs370587053
NM_001077350.3(NPRL3):c.1278C>T (p.Asp426=) rs74712570
NM_001077350.3(NPRL3):c.1287C>G (p.Pro429=) rs2141902159
NM_001077350.3(NPRL3):c.1299G>T (p.Arg433=) rs749182879
NM_001077350.3(NPRL3):c.12C>T (p.Asn4=) rs1719721939
NM_001077350.3(NPRL3):c.1317C>T (p.Leu439=) rs1374917107
NM_001077350.3(NPRL3):c.1347C>A (p.Ser449=) rs1272247635
NM_001077350.3(NPRL3):c.1351+11C>T
NM_001077350.3(NPRL3):c.1351+11dup
NM_001077350.3(NPRL3):c.1351+9C>T
NM_001077350.3(NPRL3):c.1352-10T>A
NM_001077350.3(NPRL3):c.1352-17A>G
NM_001077350.3(NPRL3):c.1352-5C>T
NM_001077350.3(NPRL3):c.1352-6C>T
NM_001077350.3(NPRL3):c.1352-9C>G rs539074617
NM_001077350.3(NPRL3):c.1353C>T (p.Thr451=) rs2141900180
NM_001077350.3(NPRL3):c.1362T>C (p.Asp454=) rs1218207644
NM_001077350.3(NPRL3):c.1404A>G (p.Ala468=) rs2141900060
NM_001077350.3(NPRL3):c.1408C>T (p.Leu470=)
NM_001077350.3(NPRL3):c.1461G>A (p.Leu487=) rs747844612
NM_001077350.3(NPRL3):c.1466_1467insT (p.Leu490fs)
NM_001077350.3(NPRL3):c.1470G>A (p.Leu490=) rs1172480661
NM_001077350.3(NPRL3):c.1473G>A (p.Ser491=)
NM_001077350.3(NPRL3):c.1533C>A (p.Arg511=) rs2141899690
NM_001077350.3(NPRL3):c.188+10C>T
NM_001077350.3(NPRL3):c.188+13C>A
NM_001077350.3(NPRL3):c.258G>A (p.Leu86=) rs2141960692
NM_001077350.3(NPRL3):c.294A>G (p.Thr98=)
NM_001077350.3(NPRL3):c.294A>T (p.Thr98=) rs370196395
NM_001077350.3(NPRL3):c.318+13C>T rs376154100
NM_001077350.3(NPRL3):c.318+13_318+52del rs1311321918
NM_001077350.3(NPRL3):c.318+13_318+72del rs2141960376
NM_001077350.3(NPRL3):c.318+14T>C
NM_001077350.3(NPRL3):c.318+16G>A
NM_001077350.3(NPRL3):c.318+18C>A
NM_001077350.3(NPRL3):c.318+18C>T
NM_001077350.3(NPRL3):c.319-13G>A rs953340982
NM_001077350.3(NPRL3):c.319-13G>C
NM_001077350.3(NPRL3):c.319-18A>G
NM_001077350.3(NPRL3):c.346A>C (p.Arg116=)
NM_001077350.3(NPRL3):c.369T>G (p.Leu123=) rs2141957568
NM_001077350.3(NPRL3):c.393+13A>G rs767844249
NM_001077350.3(NPRL3):c.393+7G>C
NM_001077350.3(NPRL3):c.394-11C>T
NM_001077350.3(NPRL3):c.394-12T>C
NM_001077350.3(NPRL3):c.394-20G>A rs2141950467
NM_001077350.3(NPRL3):c.394-20_394-19del rs1899875996
NM_001077350.3(NPRL3):c.394-9C>T
NM_001077350.3(NPRL3):c.396C>T (p.Ala132=) rs1289225879
NM_001077350.3(NPRL3):c.420C>T (p.Asn140=) rs1330216548
NM_001077350.3(NPRL3):c.453C>T (p.Thr151=)
NM_001077350.3(NPRL3):c.465C>T (p.His155=) rs774187145
NM_001077350.3(NPRL3):c.516G>A (p.Ala172=) rs758642036
NM_001077350.3(NPRL3):c.51C>T (p.Ser17=)
NM_001077350.3(NPRL3):c.531G>A (p.Val177=) rs1899866156
NM_001077350.3(NPRL3):c.547+12A>C
NM_001077350.3(NPRL3):c.547+12A>G rs1394524575
NM_001077350.3(NPRL3):c.547+16C>A
NM_001077350.3(NPRL3):c.548-5T>C
NM_001077350.3(NPRL3):c.552T>C (p.Asn184=) rs2141946239
NM_001077350.3(NPRL3):c.591G>A (p.Lys197=) rs776506827
NM_001077350.3(NPRL3):c.629+9G>A
NM_001077350.3(NPRL3):c.630-13C>T
NM_001077350.3(NPRL3):c.630-15G>A
NM_001077350.3(NPRL3):c.630-16C>T
NM_001077350.3(NPRL3):c.630-21_630-20dup
NM_001077350.3(NPRL3):c.630-7T>C rs2141925531
NM_001077350.3(NPRL3):c.666C>T (p.Asn222=)
NM_001077350.3(NPRL3):c.687C>T (p.Phe229=) rs1596508663
NM_001077350.3(NPRL3):c.69G>C (p.Leu23=)
NM_001077350.3(NPRL3):c.714G>C (p.Ala238=) rs751260495
NM_001077350.3(NPRL3):c.714G>T (p.Ala238=) rs751260495
NM_001077350.3(NPRL3):c.732C>A (p.Pro244=) rs1196165192
NM_001077350.3(NPRL3):c.744C>A (p.Ile248=) rs375592476
NM_001077350.3(NPRL3):c.744C>T (p.Ile248=) rs375592476
NM_001077350.3(NPRL3):c.748C>A (p.Arg250=)
NM_001077350.3(NPRL3):c.765C>T (p.Ile255=)
NM_001077350.3(NPRL3):c.767+12G>A
NM_001077350.3(NPRL3):c.767+12G>T
NM_001077350.3(NPRL3):c.767+15C>A
NM_001077350.3(NPRL3):c.767+17A>C
NM_001077350.3(NPRL3):c.767+18C>T rs377414615
NM_001077350.3(NPRL3):c.767+19del
NM_001077350.3(NPRL3):c.789G>A (p.Leu263=) rs1269886749
NM_001077350.3(NPRL3):c.804G>A (p.Lys268=)
NM_001077350.3(NPRL3):c.807C>A (p.Ser269=) rs1033607990
NM_001077350.3(NPRL3):c.834C>T (p.Cys278=)
NM_001077350.3(NPRL3):c.844C>T (p.Leu282=) rs755359263
NM_001077350.3(NPRL3):c.883C>T (p.Leu295=) rs2141920152
NM_001077350.3(NPRL3):c.891G>A (p.Gln297=)
NM_001077350.3(NPRL3):c.924+17C>A
NM_001077350.3(NPRL3):c.925-10T>C
NM_001077350.3(NPRL3):c.925-12dup rs776084653
NM_001077350.3(NPRL3):c.925-6C>T
NM_001077350.3(NPRL3):c.93C>T (p.Ser31=)
NM_001077350.3(NPRL3):c.975C>A (p.Ile325=) rs2141909339
NM_001077350.3(NPRL3):c.999C>A (p.Val333=)

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