ClinVar Miner

List of variants reported as likely pathogenic by Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg

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ClinVar version:
Total variants: 184
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HGVS dbSNP
NM_000240.3(MAOA):c.730G>A (p.Val244Ile) rs1135401773
NM_000458.4(HNF1B):c.1007A>G (p.His336Arg)
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
NM_000458.4(HNF1B):c.1055A>G (p.Tyr352Cys)
NM_000458.4(HNF1B):c.1253A>C (p.Asn418Thr)
NM_000458.4(HNF1B):c.1253A>T (p.Asn418Ile)
NM_000458.4(HNF1B):c.1310C>T (p.Pro437Leu)
NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr)
NM_000458.4(HNF1B):c.1351T>A (p.Ser451Thr)
NM_000458.4(HNF1B):c.1484T>A (p.Met495Lys)
NM_000458.4(HNF1B):c.1504G>A (p.Ala502Thr)
NM_000458.4(HNF1B):c.1538A>G (p.Tyr513Cys)
NM_000458.4(HNF1B):c.1640C>T (p.Ser547Phe)
NM_000458.4(HNF1B):c.234G>C (p.Glu78Asp)
NM_000458.4(HNF1B):c.248G>A (p.Gly83Asp)
NM_000458.4(HNF1B):c.274C>T (p.Leu92Phe)
NM_000458.4(HNF1B):c.329T>G (p.Val110Gly)
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
NM_000458.4(HNF1B):c.34C>T (p.Leu12Phe)
NM_000458.4(HNF1B):c.372G>T (p.Met124Ile)
NM_000458.4(HNF1B):c.395A>C (p.His132Pro)
NM_000458.4(HNF1B):c.434T>A (p.Leu145Gln)
NM_000458.4(HNF1B):c.436A>G (p.Asn146Asp)
NM_000458.4(HNF1B):c.451T>C (p.Ser151Pro)
NM_000458.4(HNF1B):c.452C>G (p.Ser151Cys)
NM_000458.4(HNF1B):c.460C>T (p.Leu154Phe)
NM_000458.4(HNF1B):c.476C>T (p.Pro159Leu)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.494G>C (p.Arg165Pro)
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg)
NM_000458.4(HNF1B):c.513G>C (p.Trp171Cys)
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.517G>C (p.Val173Leu)
NM_000458.4(HNF1B):c.544+3_544+4insT
NM_000458.4(HNF1B):c.544+3_544+6del
NM_000458.4(HNF1B):c.698G>A (p.Arg233His)
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln)
NM_000458.4(HNF1B):c.712T>C (p.Trp238Arg)
NM_000458.4(HNF1B):c.728A>C (p.Gln243Pro)
NM_000458.4(HNF1B):c.737T>C (p.Leu246Ser)
NM_000458.4(HNF1B):c.755G>C (p.Arg252Pro)
NM_000458.4(HNF1B):c.758A>C (p.Gln253Pro)
NM_000458.4(HNF1B):c.766C>T (p.Pro256Ser)
NM_000458.4(HNF1B):c.781A>G (p.Arg261Gly)
NM_000458.4(HNF1B):c.791T>C (p.Leu264Ser)
NM_000458.4(HNF1B):c.818G>A (p.Cys273Tyr)
NM_000458.4(HNF1B):c.818G>C (p.Cys273Ser)
NM_000458.4(HNF1B):c.826C>G (p.Arg276Gly)
NM_000458.4(HNF1B):c.853G>A (p.Gly285Ser)
NM_000458.4(HNF1B):c.856C>G (p.Leu286Val)
NM_000458.4(HNF1B):c.860G>T (p.Gly287Val)
NM_000458.4(HNF1B):c.884G>C (p.Arg295Pro)
NM_000458.4(HNF1B):c.886G>T (p.Val296Phe)
NM_000458.4(HNF1B):c.895T>G (p.Trp299Gly)
NM_000458.4(HNF1B):c.904A>G (p.Asn302Asp)
NM_000458.4(HNF1B):c.906C>A (p.Asn302Lys)
NM_000458.4(HNF1B):c.940G>A (p.Ala314Thr)
NM_001014447.3(CPZ):c.1321G>T (p.Gly441Trp) rs775707132
NM_001014447.3(CPZ):c.493C>T (p.Arg165Trp) rs375633720
NM_001105079.3(FBRS):c.2137G>A (p.Gly713Ser) rs1567547614
NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala) rs1259852690
NM_001142966.2(GREB1L):c.111T>G (p.Phe37Leu) rs1567966432
NM_001142966.2(GREB1L):c.988C>T (p.Arg330Trp) rs377314861
NM_001271223.2(OBSCN):c.7595C>T (p.Ala2532Val) rs1480591236
NM_001271223.2(OBSCN):c.8582C>T (p.Thr2861Met) rs747262678
NM_001346022.3(USP45):c.1567A>G (p.Ser523Gly) rs1562308994
NM_001346022.3(USP45):c.178T>G (p.Ser60Ala) rs1562456317
NM_001346022.3(USP45):c.727G>A (p.Val243Met) rs1562391520
NM_001466.4(FZD2):c.1403T>G (p.Leu468Arg) rs1568105562
NM_001693.4(ATP6V1B2):c.1120G>C (p.Glu374Gln) rs1135401772
NM_001704.3(ADGRB3):c.2294T>C (p.Val765Ala) rs1562137453
NM_001704.3(ADGRB3):c.4298G>A (p.Arg1433Lys) rs1562005199
NM_002862.4(PYGB):c.2047A>G (p.Met683Val) rs201805961
NM_003601.4(SMARCA5):c.940A>C (p.Lys314Gln) rs1560814874
NM_003862.3(FGF18):c.211C>T (p.Arg71Cys) rs1441510334
NM_004362.3(CLGN):c.386C>A (p.Pro129Gln) rs1560743601
NM_004362.3(CLGN):c.731A>G (p.Asp244Gly) rs201306926
NM_004362.3(CLGN):c.959A>G (p.Lys320Arg) rs1560739587
NM_004979.6(KCND1):c.1468-8G>T rs376253982
NM_004979.6(KCND1):c.1774C>T (p.Arg592Trp) rs1230432769
NM_005560.5(LAMA5):c.10322C>T (p.Thr3441Met) rs200093098
NM_005560.5(LAMA5):c.3244C>A (p.Pro1082Thr) rs766464011
NM_005560.5(LAMA5):c.6101A>G (p.Asp2034Gly) rs773956500
NM_005560.5(LAMA5):c.6301G>A (p.Glu2101Lys) rs370433088
NM_006009.4(TUBA1A):c.1025A>C (p.Gln342Pro) rs1555162307
NM_006009.4(TUBA1A):c.1055A>T (p.Lys352Met) rs1555162303
NM_006009.4(TUBA1A):c.1057G>A (p.Val353Ile) rs1565627023
NM_006009.4(TUBA1A):c.1076C>T (p.Pro359Leu) rs1085307724
NM_006009.4(TUBA1A):c.1091C>G (p.Pro364Arg) rs1131691349
NM_006009.4(TUBA1A):c.1129A>G (p.Met377Val) rs587784481
NM_006009.4(TUBA1A):c.1144A>G (p.Thr382Ala) rs1555162294
NM_006009.4(TUBA1A):c.1168C>G (p.Arg390Gly) rs1064793286
NM_006009.4(TUBA1A):c.1169G>C (p.Arg390Pro) rs1064796460
NM_006009.4(TUBA1A):c.1204C>A (p.Arg402Ser) rs587784483
NM_006009.4(TUBA1A):c.1246G>A (p.Gly416Ser) rs1057521986
NM_006009.4(TUBA1A):c.1304T>C (p.Val435Ala) rs1555162242
NM_006009.4(TUBA1A):c.1341del (p.Gly448fs) rs1565626826
NM_006009.4(TUBA1A):c.139G>C (p.Asp47His) rs1555162536
NM_006009.4(TUBA1A):c.13A>C (p.Ile5Leu) rs387906840
NM_006009.4(TUBA1A):c.152C>T (p.Thr51Ile) rs587784485
NM_006009.4(TUBA1A):c.162T>A (p.Ser54Arg) rs587784486
NM_006009.4(TUBA1A):c.17C>G (p.Ser6Cys) rs1057520574
NM_006009.4(TUBA1A):c.269A>G (p.Glu90Gly) rs797046072
NM_006009.4(TUBA1A):c.379G>A (p.Asp127Asn) rs1085308005
NM_006009.4(TUBA1A):c.40G>A (p.Val14Ile) rs1565627791
NM_006009.4(TUBA1A):c.410T>A (p.Val137Asp) rs1565627364
NM_006009.4(TUBA1A):c.418A>G (p.Ser140Gly) rs1565627360
NM_006009.4(TUBA1A):c.424G>A (p.Gly142Ser) rs1555162407
NM_006009.4(TUBA1A):c.424G>T (p.Gly142Cys) rs1555162407
NM_006009.4(TUBA1A):c.427G>A (p.Gly143Arg) rs1131691318
NM_006009.4(TUBA1A):c.455T>A (p.Leu152Gln) rs1057521063
NM_006009.4(TUBA1A):c.481T>G (p.Tyr161Asp) rs587784488
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.4(TUBA1A):c.53A>G (p.Asn18Ser) rs1064795213
NM_006009.4(TUBA1A):c.544G>T (p.Val182Phe) rs1565627282
NM_006009.4(TUBA1A):c.596A>G (p.Asp199Gly) rs786205479
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His) rs587784491
NM_006009.4(TUBA1A):c.641G>T (p.Arg214Leu) rs1057517843
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_006009.4(TUBA1A):c.655A>G (p.Ile219Val) rs1565627220
NM_006009.4(TUBA1A):c.691A>C (p.Ile231Leu) rs1565627198
NM_006009.4(TUBA1A):c.698A>G (p.Gln233Arg) rs587784492
NM_006009.4(TUBA1A):c.712A>G (p.Ile238Val) rs1565627184
NM_006009.4(TUBA1A):c.715A>C (p.Thr239Pro) rs1064795738
NM_006009.4(TUBA1A):c.734A>G (p.Asp245Gly) rs1565627164
NM_006009.4(TUBA1A):c.790C>G (p.Arg264Gly) rs137853043
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006009.4(TUBA1A):c.808G>A (p.Ala270Thr) rs587784494
NM_006009.4(TUBA1A):c.815A>G (p.Tyr272Cys) rs1064795417
NM_006009.4(TUBA1A):c.82C>T (p.His28Tyr) rs1555162549
NM_006009.4(TUBA1A):c.856C>T (p.Leu286Phe) rs1565627116
NM_006009.4(TUBA1A):c.887T>C (p.Phe296Ser) rs1131691597
NM_006009.4(TUBA1A):c.916G>T (p.Asp306Tyr) rs1555162330
NM_006009.4(TUBA1A):c.919C>T (p.Pro307Ser) rs1555162327
NM_006009.4(TUBA1A):c.970G>C (p.Val324Leu) rs797046073
NM_006009.4(TUBA1A):c.995T>C (p.Ile332Thr) rs587784497
NM_006307.5(SRPX):c.731G>C (p.Arg244Thr) rs756386867
NM_006767.4(LZTR1):c.62G>C (p.Arg21Pro) rs1469540056
NM_006885.4(ZFHX3):c.3757C>T (p.Arg1253Cys) rs769603301
NM_007368.4(RASA3):c.254T>C (p.Val85Ala) rs1566529937
NM_012090.5(MACF1):c.16058G>A (p.Arg5353His) rs755081350
NM_012090.5(MACF1):c.3842G>A (p.Arg1281Gln) rs559634261
NM_012244.4(SLC7A8):c.730G>A (p.Ala244Thr) rs752482499
NM_012244.4(SLC7A8):c.851A>G (p.Asn284Ser) rs759951698
NM_013943.3(CLIC4):c.220C>T (p.His74Tyr) rs1557810606
NM_014055.4(IFT81):c.1150C>T (p.Arg384Cys) rs143130309
NM_014055.4(IFT81):c.259C>T (p.Arg87Cys) rs761469100
NM_014815.4(MED24):c.1247C>G (p.Thr416Ser) rs1568162263
NM_014815.4(MED24):c.2288G>A (p.Arg763Gln) rs760297650
NM_014856.3(DENND4B):c.1825C>T (p.Leu609Phe) rs1557853919
NM_015009.3(PDZRN3):c.1417-10T>C rs778037798
NM_015009.3(PDZRN3):c.2101A>C (p.Ser701Arg) rs747762087
NM_015306.3(USP24):c.7448-7C>T rs1557523211
NM_016436.5(PHF20):c.2593G>A (p.Asp865Asn) rs771829423
NM_016436.5(PHF20):c.890C>T (p.Pro297Leu) rs1456887132
NM_017514.5(PLXNA3):c.1623G>C (p.Gln541His) rs782515431
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp) rs202070666
NM_017999.5(RNF31):c.2333A>G (p.Tyr778Cys) rs1566615893
NM_017999.5(RNF31):c.2480G>A (p.Arg827His) rs377035972
NM_018031.6(WDR6):c.2543G>A (p.Arg848His) rs150300426
NM_020744.3(MTA3):c.635G>A (p.Cys212Tyr) rs1558553140
NM_020765.3(UBR4):c.10388G>A (p.Arg3463His) rs747867083
NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr) rs761960636
NM_020765.3(UBR4):c.4045C>G (p.Arg1349Gly) rs776593168
NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser) rs144709443
NM_020765.3(UBR4):c.7031A>G (p.Asn2344Ser) rs748323629
NM_020884.5(MYH7B):c.3112G>A (p.Val1038Met) rs1430282035
NM_024899.4(CEP76):c.1874G>A (p.Arg625His) rs1363884891
NM_025130.4(HKDC1):c.1009C>T (p.Arg337Trp) rs148723879
NM_025130.4(HKDC1):c.1088C>T (p.Pro363Leu) rs200034765
NM_025130.4(HKDC1):c.301G>T (p.Gly101Trp) rs1564726619
NM_025191.4(EDEM3):c.1204T>G (p.Leu402Val) rs1558053119
NM_025191.4(EDEM3):c.2431G>T (p.Asp811Tyr) rs765435034
NM_032410.4(HOOK3):c.1150G>A (p.Glu384Lys) rs747141054
NM_032410.4(HOOK3):c.225T>G (p.Asn75Lys) rs1563293555
NM_058243.2(BRD4):c.1856G>T (p.Ser619Ile) rs1568383758
NM_080425.3(GNAS):c.475G>A (p.Glu159Lys) rs1135401777
NM_133178.4(PTPRU):c.2531C>T (p.Pro844Leu) rs559788899
NM_133178.4(PTPRU):c.4165A>C (p.Met1389Leu) rs540351799
NM_144982.5(ZFC3H1):c.5885T>C (p.Leu1962Pro) rs1565798439
NM_144982.5(ZFC3H1):c.947G>A (p.Arg316His) rs767539150
NM_173628.4(DNAH17):c.3766G>A (p.Gly1256Arg) rs768564744
NM_173628.4(DNAH17):c.6563G>A (p.Arg2188Gln) rs763505389

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