ClinVar Miner

List of variants in gene DCLRE1B studied for central nervous system malformation

Included ClinVar conditions (163):
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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_022836.4(DCLRE1B):c.234T>C (p.His78=) rs3761936 0.15394
NM_022836.4(DCLRE1B):c.1384G>A (p.Asp462Asn) rs28381079 0.01483
NM_022836.4(DCLRE1B):c.1302C>T (p.His434=) rs144843243 0.00192
NM_022836.4(DCLRE1B):c.847C>T (p.Arg283Cys) rs145569979 0.00127
NM_022836.4(DCLRE1B):c.1528A>T (p.Asn510Tyr) rs35397235 0.00126
NM_022836.4(DCLRE1B):c.279C>T (p.Thr93=) rs144640614 0.00042
NM_022836.4(DCLRE1B):c.732T>C (p.Arg244=) rs200330629 0.00039
NM_022836.4(DCLRE1B):c.848G>A (p.Arg283His) rs143568469 0.00031
NM_022836.4(DCLRE1B):c.137G>T (p.Arg46Leu) rs28381069 0.00022
NM_022836.4(DCLRE1B):c.394G>C (p.Ala132Pro) rs140411676 0.00020
NM_022836.4(DCLRE1B):c.1253C>T (p.Ser418Phe) rs202133913 0.00019
NM_022836.4(DCLRE1B):c.1183C>T (p.Arg395Trp) rs141081316 0.00018
NM_022836.4(DCLRE1B):c.1184G>A (p.Arg395Gln) rs146482651 0.00018
NM_022836.4(DCLRE1B):c.1188C>G (p.Ile396Met) rs769393520 0.00017
NM_022836.4(DCLRE1B):c.1137T>A (p.Ser379=) rs183344879 0.00014
NM_022836.4(DCLRE1B):c.1148C>T (p.Ala383Val) rs142747676 0.00010
NM_022836.4(DCLRE1B):c.944C>G (p.Ser315Cys) rs368157267 0.00010
NM_022836.4(DCLRE1B):c.1004G>A (p.Ser335Asn) rs200392246 0.00009
NM_022836.4(DCLRE1B):c.1347G>T (p.Glu449Asp) rs777030988 0.00008
NM_022836.4(DCLRE1B):c.1434C>T (p.Gly478=) rs199507509 0.00008
NM_022836.4(DCLRE1B):c.961G>A (p.Asp321Asn) rs370614998 0.00008
NM_022836.4(DCLRE1B):c.1256A>G (p.Gln419Arg) rs764178255 0.00006
NM_022836.4(DCLRE1B):c.1375C>G (p.Pro459Ala) rs200134441 0.00006
NM_022836.4(DCLRE1B):c.771A>G (p.Thr257=) rs768273057 0.00006
NM_022836.4(DCLRE1B):c.929T>A (p.Leu310Gln) rs201436658 0.00006
NM_022836.4(DCLRE1B):c.273C>T (p.Thr91=) rs199758910 0.00005
NM_022836.4(DCLRE1B):c.15G>C (p.Leu5=) rs746144334 0.00004
NM_022836.4(DCLRE1B):c.430C>T (p.Leu144=) rs774530909 0.00004
NM_022836.4(DCLRE1B):c.923A>G (p.Asp308Gly) rs1199130382 0.00004
NM_022836.4(DCLRE1B):c.1238T>C (p.Val413Ala) rs367553852 0.00003
NM_022836.4(DCLRE1B):c.1277C>T (p.Thr426Met) rs375759945 0.00003
NM_022836.4(DCLRE1B):c.1360G>A (p.Gly454Arg) rs770223898 0.00003
NM_022836.4(DCLRE1B):c.1519A>T (p.Thr507Ser) rs757797519 0.00003
NM_022836.4(DCLRE1B):c.946G>A (p.Val316Met) rs749431578 0.00003
NM_022836.4(DCLRE1B):c.1040C>T (p.Pro347Leu) rs527254164 0.00002
NM_022836.4(DCLRE1B):c.1058T>C (p.Val353Ala) rs777529403 0.00002
NM_022836.4(DCLRE1B):c.1093C>G (p.Gln365Glu) rs780781288 0.00002
NM_022836.4(DCLRE1B):c.1163A>G (p.Gln388Arg) rs745340882 0.00002
NM_022836.4(DCLRE1B):c.153C>G (p.Ser51=) rs760179150 0.00002
NM_022836.4(DCLRE1B):c.178C>G (p.Arg60Gly) rs764770290 0.00002
NM_022836.4(DCLRE1B):c.472C>T (p.Arg158Ter) rs150374247 0.00002
NM_022836.4(DCLRE1B):c.528C>T (p.Asn176=) rs144459176 0.00002
NM_022836.4(DCLRE1B):c.689A>G (p.His230Arg) rs755456896 0.00002
NM_022836.4(DCLRE1B):c.753G>A (p.Thr251=) rs574323645 0.00002
NM_022836.4(DCLRE1B):c.858C>T (p.Val286=) rs773997509 0.00002
NM_022836.4(DCLRE1B):c.993T>C (p.Ser331=) rs750879802 0.00002
NM_022836.4(DCLRE1B):c.1149G>A (p.Ala383=) rs759682384 0.00001
NM_022836.4(DCLRE1B):c.1181T>G (p.Leu394Trp) rs758926583 0.00001
NM_022836.4(DCLRE1B):c.12C>T (p.Val4=) rs34713392 0.00001
NM_022836.4(DCLRE1B):c.135C>T (p.Ala45=) rs768672121 0.00001
NM_022836.4(DCLRE1B):c.136C>T (p.Arg46Trp) rs774397708 0.00001
NM_022836.4(DCLRE1B):c.1433G>T (p.Gly478Val) rs781509316 0.00001
NM_022836.4(DCLRE1B):c.1455C>T (p.His485=) rs1558110685 0.00001
NM_022836.4(DCLRE1B):c.1500A>C (p.Leu500=) rs760666458 0.00001
NM_022836.4(DCLRE1B):c.1597T>C (p.Ter533Arg) rs748342283 0.00001
NM_022836.4(DCLRE1B):c.218A>C (p.Glu73Ala) rs770692934 0.00001
NM_022836.4(DCLRE1B):c.243C>G (p.Pro81=) rs762552451 0.00001
NM_022836.4(DCLRE1B):c.260A>G (p.Gln87Arg) rs1439653012 0.00001
NM_022836.4(DCLRE1B):c.280C>T (p.Leu94Phe) rs758475213 0.00001
NM_022836.4(DCLRE1B):c.524A>G (p.His175Arg) rs375674908 0.00001
NM_022836.4(DCLRE1B):c.582C>T (p.Ala194=) rs1421095735 0.00001
NM_022836.4(DCLRE1B):c.617G>A (p.Arg206Gln) rs1401066315 0.00001
NM_022836.4(DCLRE1B):c.752C>T (p.Thr251Met) rs745991382 0.00001
NM_022836.4(DCLRE1B):c.781A>G (p.Ile261Val) rs1478635543 0.00001
NM_022836.4(DCLRE1B):c.892G>A (p.Val298Ile) rs921843370 0.00001
NM_022836.4(DCLRE1B):c.899G>A (p.Arg300Gln) rs1216262296 0.00001
NM_022836.4(DCLRE1B):c.960G>A (p.Pro320=) rs771842799 0.00001
NM_022836.4(DCLRE1B):c.99C>T (p.His33=) rs747335906 0.00001
NM_022836.4(DCLRE1B):c.10G>A (p.Val4Ile) rs1437958560
NM_022836.4(DCLRE1B):c.111C>A (p.Thr37=) rs757534089
NM_022836.4(DCLRE1B):c.1339A>T (p.Thr447Ser) rs1038661281
NM_022836.4(DCLRE1B):c.1342A>C (p.Arg448=) rs1669276096
NM_022836.4(DCLRE1B):c.1368C>T (p.Pro456=) rs2101075850
NM_022836.4(DCLRE1B):c.1456dup (p.Ser486fs) rs779442399
NM_022836.4(DCLRE1B):c.1461C>G (p.Ser487Arg) rs1558110707
NM_022836.4(DCLRE1B):c.188A>C (p.Gln63Pro) rs1668897682
NM_022836.4(DCLRE1B):c.190-3C>G rs1242019671
NM_022836.4(DCLRE1B):c.226G>C (p.Glu76Gln) rs776471212
NM_022836.4(DCLRE1B):c.253A>G (p.Ile85Val) rs761321321
NM_022836.4(DCLRE1B):c.274G>A (p.Val92Ile) rs755192360
NM_022836.4(DCLRE1B):c.341C>G (p.Thr114Ser) rs2101068175
NM_022836.4(DCLRE1B):c.377C>T (p.Ser126Phe) rs1339289910
NM_022836.4(DCLRE1B):c.41A>G (p.Asp14Gly) rs1333588223
NM_022836.4(DCLRE1B):c.447C>G (p.Cys149Trp) rs369389853
NM_022836.4(DCLRE1B):c.508C>T (p.Arg170Ter) rs138603501
NM_022836.4(DCLRE1B):c.519A>G (p.Pro173=) rs1669111834
NM_022836.4(DCLRE1B):c.646C>T (p.Leu216=) rs2101074559
NM_022836.4(DCLRE1B):c.753G>C (p.Thr251=) rs574323645
NM_022836.4(DCLRE1B):c.77T>G (p.Leu26Arg) rs1553260999
NM_022836.4(DCLRE1B):c.78CTT[2] (p.Phe28del) rs763030449
NM_022836.4(DCLRE1B):c.833C>T (p.Ser278Phe) rs946912356
NM_022836.4(DCLRE1B):c.840C>G (p.Ser280=) rs532282272
NM_022836.4(DCLRE1B):c.840C>T (p.Ser280=) rs532282272
NM_022836.4(DCLRE1B):c.879G>C (p.Gln293His) rs772803140
NM_022836.4(DCLRE1B):c.950C>G (p.Pro317Arg) rs754841219

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