ClinVar Miner

List of variants in gene NIPBL studied for Inborn genetic diseases

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Gene type:
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Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200 0.13068
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471 0.12117
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) rs293756 0.03533
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445 0.03530
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) rs16903425 0.01529
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) rs35748854 0.00882
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00280
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449 0.00229
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00186
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=) rs148075057 0.00101
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
NM_133433.4(NIPBL):c.6057C>T (p.Leu2019=) rs140907869 0.00077
NM_133433.4(NIPBL):c.2349A>G (p.Lys783=) rs141851878 0.00076
NM_133433.4(NIPBL):c.2727T>C (p.Gly909=) rs148394805 0.00064
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=) rs148542094 0.00056
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=) rs145952190 0.00051
NM_133433.4(NIPBL):c.5709+4G>A rs370325589 0.00050
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_133433.4(NIPBL):c.804A>G (p.Ala268=) rs144238532 0.00046
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654 0.00037
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
NM_133433.4(NIPBL):c.961A>C (p.Arg321=) rs138720101 0.00036
NM_133433.4(NIPBL):c.1891G>T (p.Val631Leu) rs142820200 0.00032
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser) rs142703446 0.00029
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359 0.00028
NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=) rs371347218 0.00026
NM_133433.4(NIPBL):c.1992C>T (p.Asn664=) rs116049172 0.00019
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) rs149629686 0.00019
NM_133433.4(NIPBL):c.1210C>T (p.Pro404Ser) rs560785308 0.00016
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=) rs376637245 0.00016
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser) rs180747605 0.00016
NM_133433.4(NIPBL):c.6624C>T (p.Phe2208=) rs371380435 0.00016
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr) rs147054690 0.00015
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) rs200440893 0.00014
NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=) rs149186951 0.00013
NM_133433.4(NIPBL):c.8085G>A (p.Thr2695=) rs201036501 0.00010
NM_133433.4(NIPBL):c.6954+3A>G rs769439754 0.00007
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala) rs185745349 0.00006
NM_133433.4(NIPBL):c.7590A>G (p.Ser2530=) rs1286310849 0.00006
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala) rs587783890 0.00005
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg) rs150837768 0.00004
NM_133433.4(NIPBL):c.2120G>T (p.Gly707Val) rs768620796 0.00004
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=) rs587783913 0.00004
NM_133433.4(NIPBL):c.310C>G (p.Pro104Ala) rs772009624 0.00004
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys) rs587784058 0.00004
NM_133433.4(NIPBL):c.915A>G (p.Ser305=) rs555224277 0.00004
NM_133433.4(NIPBL):c.948A>G (p.Leu316=) rs201213428 0.00004
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val) rs200991784 0.00003
NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly) rs587784018 0.00003
NM_133433.4(NIPBL):c.2515A>G (p.Arg839Gly) rs780665254 0.00002
NM_133433.4(NIPBL):c.3204T>C (p.Arg1068=) rs768002739 0.00002
NM_133433.4(NIPBL):c.8414A>G (p.Ter2805=) rs778876578 0.00002
NM_133433.4(NIPBL):c.1583C>T (p.Thr528Met) rs574981584 0.00001
NM_133433.4(NIPBL):c.2261G>T (p.Arg754Leu) rs748268539 0.00001
NM_133433.4(NIPBL):c.2511G>C (p.Gln837His) rs201163469 0.00001
NM_133433.4(NIPBL):c.313A>G (p.Asn105Asp) rs376768802 0.00001
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836 0.00001
NM_133433.4(NIPBL):c.3630G>A (p.Leu1210=) rs372752190 0.00001
NM_133433.4(NIPBL):c.3868G>A (p.Glu1290Lys) rs587783935 0.00001
NM_133433.4(NIPBL):c.5295G>A (p.Pro1765=) rs758853244 0.00001
NM_133433.4(NIPBL):c.6557A>G (p.Glu2186Gly) rs398124469 0.00001
NM_133433.4(NIPBL):c.7097A>G (p.Gln2366Arg) rs528591545 0.00001
NM_133433.4(NIPBL):c.7463A>G (p.Asn2488Ser) rs794727675 0.00001
NM_133433.4(NIPBL):c.7641C>T (p.Leu2547=) rs587784046 0.00001
NM_133433.4(NIPBL):c.8084C>T (p.Thr2695Met) rs766898203 0.00001
NM_133433.4(NIPBL):c.1016G>A (p.Ser339Asn)
NM_133433.4(NIPBL):c.1136G>T (p.Gly379Val)
NM_133433.4(NIPBL):c.1148G>A (p.Ser383Asn)
NM_133433.4(NIPBL):c.1262C>T (p.Ser421Leu)
NM_133433.4(NIPBL):c.1279G>C (p.Ala427Pro)
NM_133433.4(NIPBL):c.1333G>A (p.Ala445Thr)
NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter) rs1554015303
NM_133433.4(NIPBL):c.1449A>G (p.Glu483=)
NM_133433.4(NIPBL):c.1595G>T (p.Gly532Val)
NM_133433.4(NIPBL):c.1646G>T (p.Gly549Val)
NM_133433.4(NIPBL):c.1690A>G (p.Ile564Val)
NM_133433.4(NIPBL):c.1701T>G (p.Pro567=)
NM_133433.4(NIPBL):c.1807A>C (p.Lys603Gln)
NM_133433.4(NIPBL):c.184G>C (p.Val62Leu)
NM_133433.4(NIPBL):c.1886G>A (p.Arg629Gln)
NM_133433.4(NIPBL):c.2042C>G (p.Thr681Arg)
NM_133433.4(NIPBL):c.2076A>C (p.Arg692Ser)
NM_133433.4(NIPBL):c.2092T>C (p.Ser698Pro)
NM_133433.4(NIPBL):c.2194A>G (p.Arg732Gly)
NM_133433.4(NIPBL):c.2228G>A (p.Arg743His)
NM_133433.4(NIPBL):c.225T>C (p.Asp75=)
NM_133433.4(NIPBL):c.2344C>T (p.His782Tyr)
NM_133433.4(NIPBL):c.2367C>G (p.Asp789Glu)
NM_133433.4(NIPBL):c.2375G>C (p.Arg792Pro)
NM_133433.4(NIPBL):c.2375G>T (p.Arg792Leu) rs376912534
NM_133433.4(NIPBL):c.2436G>C (p.Glu812Asp)
NM_133433.4(NIPBL):c.2471C>T (p.Ser824Leu) rs587783904
NM_133433.4(NIPBL):c.2481G>A (p.Arg827=)
NM_133433.4(NIPBL):c.2495G>A (p.Arg832Gln)
NM_133433.4(NIPBL):c.2511G>A (p.Gln837=)
NM_133433.4(NIPBL):c.2525G>T (p.Arg842Ile)
NM_133433.4(NIPBL):c.2548A>G (p.Ser850Gly)
NM_133433.4(NIPBL):c.256G>A (p.Asp86Asn)
NM_133433.4(NIPBL):c.2771A>G (p.Asn924Ser)
NM_133433.4(NIPBL):c.2798C>G (p.Ala933Gly)
NM_133433.4(NIPBL):c.2956G>A (p.Val986Ile)
NM_133433.4(NIPBL):c.2980G>T (p.Asp994Tyr)
NM_133433.4(NIPBL):c.3049A>C (p.Ile1017Leu)
NM_133433.4(NIPBL):c.3068A>G (p.Lys1023Arg) rs1580399961
NM_133433.4(NIPBL):c.306G>T (p.Arg102Ser)
NM_133433.4(NIPBL):c.3203G>A (p.Arg1068His)
NM_133433.4(NIPBL):c.3295G>A (p.Ala1099Thr)
NM_133433.4(NIPBL):c.3359G>A (p.Arg1120His)
NM_133433.4(NIPBL):c.3429T>C (p.Gly1143=)
NM_133433.4(NIPBL):c.3475T>G (p.Tyr1159Asp)
NM_133433.4(NIPBL):c.3542G>A (p.Arg1181Lys)
NM_133433.4(NIPBL):c.3742A>G (p.Ile1248Val)
NM_133433.4(NIPBL):c.3810GAA[1] (p.Lys1271del)
NM_133433.4(NIPBL):c.3906G>A (p.Glu1302=)
NM_133433.4(NIPBL):c.3937dup (p.Thr1313fs)
NM_133433.4(NIPBL):c.409C>T (p.Pro137Ser)
NM_133433.4(NIPBL):c.4240G>T (p.Val1414Phe)
NM_133433.4(NIPBL):c.4305T>C (p.Ile1435=) rs961442680
NM_133433.4(NIPBL):c.4321G>A (p.Val1441Ile)
NM_133433.4(NIPBL):c.435C>T (p.Thr145=) rs1561082537
NM_133433.4(NIPBL):c.450C>A (p.Ser150Arg)
NM_133433.4(NIPBL):c.4534A>G (p.Asn1512Asp)
NM_133433.4(NIPBL):c.4560+2_4560+5del
NM_133433.4(NIPBL):c.459-3del
NM_133433.4(NIPBL):c.4760_4763del (p.Ser1586_Leu1587insTer) rs1554024009
NM_133433.4(NIPBL):c.4773G>C (p.Leu1591=) rs587783958
NM_133433.4(NIPBL):c.483C>T (p.Ser161=)
NM_133433.4(NIPBL):c.5051C>T (p.Thr1684Ile) rs774109272
NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala)
NM_133433.4(NIPBL):c.5192T>C (p.Ile1731Thr)
NM_133433.4(NIPBL):c.5245G>A (p.Asp1749Asn)
NM_133433.4(NIPBL):c.524C>T (p.Pro175Leu)
NM_133433.4(NIPBL):c.5266A>G (p.Ile1756Val)
NM_133433.4(NIPBL):c.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter) rs80358362
NM_133433.4(NIPBL):c.5575-5T>C
NM_133433.4(NIPBL):c.5762A>T (p.Asn1921Ile)
NM_133433.4(NIPBL):c.5772A>C (p.Glu1924Asp)
NM_133433.4(NIPBL):c.5814A>G (p.Ala1938=)
NM_133433.4(NIPBL):c.604C>G (p.Gln202Glu)
NM_133433.4(NIPBL):c.6069T>C (p.His2023=) rs1561196903
NM_133433.4(NIPBL):c.6124A>G (p.Met2042Val)
NM_133433.4(NIPBL):c.6143C>G (p.Ala2048Gly) rs1554031795
NM_133433.4(NIPBL):c.6316G>T (p.Val2106Leu)
NM_133433.4(NIPBL):c.65-5A>C rs587784012
NM_133433.4(NIPBL):c.6679_6682del (p.Val2227fs) rs2149737037
NM_133433.4(NIPBL):c.6716C>A (p.Thr2239Asn)
NM_133433.4(NIPBL):c.6807T>C (p.Asp2269=)
NM_133433.4(NIPBL):c.6846T>C (p.Tyr2282=)
NM_133433.4(NIPBL):c.7123C>A (p.Leu2375Ile)
NM_133433.4(NIPBL):c.713A>G (p.Asn238Ser)
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133433.4(NIPBL):c.7245C>T (p.Asn2415=) rs1561216202
NM_133433.4(NIPBL):c.7357A>G (p.Ile2453Val)
NM_133433.4(NIPBL):c.7371C>G (p.Leu2457=)
NM_133433.4(NIPBL):c.7400_7401insT (p.Phe2468fs) rs1754205019
NM_133433.4(NIPBL):c.7462A>G (p.Asn2488Asp)
NM_133433.4(NIPBL):c.7487A>T (p.Glu2496Val)
NM_133433.4(NIPBL):c.7488A>T (p.Glu2496Asp)
NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3]) rs587784044
NM_133433.4(NIPBL):c.7553A>T (p.Asp2518Val)
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.771C>T (p.Asp257=)
NM_133433.4(NIPBL):c.7765C>T (p.His2589Tyr)
NM_133433.4(NIPBL):c.7776A>G (p.Gln2592=)
NM_133433.4(NIPBL):c.7838G>A (p.Ser2613Asn)
NM_133433.4(NIPBL):c.7861-1G>A
NM_133433.4(NIPBL):c.7967G>T (p.Gly2656Val)
NM_133433.4(NIPBL):c.8050-5T>A
NM_133433.4(NIPBL):c.8118C>T (p.Asp2706=)
NM_133433.4(NIPBL):c.8198G>A (p.Ser2733Asn)
NM_133433.4(NIPBL):c.8258G>A (p.Arg2753His)
NM_133433.4(NIPBL):c.8340T>C (p.Ser2780=)
NM_133433.4(NIPBL):c.835T>A (p.Cys279Ser)
NM_133433.4(NIPBL):c.869G>A (p.Gly290Asp)
NM_133433.4(NIPBL):c.891A>G (p.Leu297=)
NM_133433.4(NIPBL):c.923G>A (p.Arg308Gln)
NM_133433.4(NIPBL):c.927T>C (p.Asp309=)
NM_133433.4(NIPBL):c.933A>C (p.Pro311=)
NM_133433.4(NIPBL):c.941T>C (p.Ile314Thr)

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