ClinVar Miner

List of variants in gene NIPBL studied for not specified

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Gene type:
ClinVar version:
Total variants: 124
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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.3575-17A>G rs78827246 0.12109
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.4561-16C>T rs115403650 0.02404
NM_133433.4(NIPBL):c.4421+7A>G rs76297333 0.02109
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_133433.4(NIPBL):c.4240-14T>G rs298972 0.01903
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) rs16903425 0.01529
NM_133433.4(NIPBL):c.3121+11T>G rs457583 0.00941
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.3502+17A>C rs144725401 0.00230
NM_133433.4(NIPBL):c.4320+14A>G rs377381536 0.00186
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00186
NM_133433.4(NIPBL):c.65-17G>C rs201348552 0.00178
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
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.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.615G>A (p.Ser205=) rs150678035 0.00048
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.2447G>A (p.Arg816His) rs80358359 0.00028
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro) rs139819353 0.00024
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) rs149629686 0.00019
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=) rs376637245 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.5981A>G (p.Asn1994Ser) rs368028754 0.00011
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703 0.00009
NM_133433.4(NIPBL):c.2105C>T (p.Thr702Ile) rs372162252 0.00007
NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser) rs190086412 0.00007
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=) rs376448686 0.00006
NM_133433.4(NIPBL):c.6589+9A>T rs370709104 0.00006
NM_133433.4(NIPBL):c.3126T>C (p.Ser1042=) rs757245118 0.00005
NM_133433.4(NIPBL):c.2772C>T (p.Asn924=) rs188565385 0.00004
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=) rs587783913 0.00004
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys) rs587784058 0.00004
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val) rs200991784 0.00003
NM_133433.4(NIPBL):c.3768+34T>G rs149115930 0.00003
NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly) rs587784018 0.00003
NM_133433.4(NIPBL):c.6764-4G>C rs757590127 0.00003
NM_133433.4(NIPBL):c.126T>C (p.Phe42=) rs727504046 0.00002
NM_133433.4(NIPBL):c.1817C>T (p.Pro606Leu) rs958483468 0.00002
NM_133433.4(NIPBL):c.5226-4G>A rs370826969 0.00002
NM_133433.4(NIPBL):c.5762A>G (p.Asn1921Ser) rs587783983 0.00002
NM_133433.4(NIPBL):c.5863-16A>G rs578098911 0.00002
NM_133433.4(NIPBL):c.6988C>G (p.Pro2330Ala) rs764147606 0.00002
NM_133433.4(NIPBL):c.1150A>G (p.Asn384Asp) rs587783881 0.00001
NM_133433.4(NIPBL):c.1164T>C (p.Asn388=) rs768113851 0.00001
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=) rs555179389 0.00001
NM_133433.4(NIPBL):c.1526C>G (p.Ser509Cys) rs80358352 0.00001
NM_133433.4(NIPBL):c.1979A>G (p.Glu660Gly) rs867081982 0.00001
NM_133433.4(NIPBL):c.2451C>T (p.Asp817=) rs587783903 0.00001
NM_133433.4(NIPBL):c.3347A>G (p.Glu1116Gly) rs552620284 0.00001
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836 0.00001
NM_133433.4(NIPBL):c.3574+20A>C rs530238141 0.00001
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=) rs143252734 0.00001
NM_133433.4(NIPBL):c.42G>A (p.Ala14=) rs727504045 0.00001
NM_133433.4(NIPBL):c.4777-12T>C rs80358381 0.00001
NM_133433.4(NIPBL):c.5010+9C>A rs536151596 0.00001
NM_133433.4(NIPBL):c.5211G>A (p.Gln1737=) rs587783962 0.00001
NM_133433.4(NIPBL):c.5295G>A (p.Pro1765=) rs758853244 0.00001
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=) rs372730081 0.00001
NM_133433.4(NIPBL):c.7463A>G (p.Asn2488Ser) rs794727675 0.00001
GRCh37/hg19 5p13.2(chr5:36902395-36963396)
NM_133433.4(NIPBL):c.*84del rs587783876
NM_133433.4(NIPBL):c.*84dup rs587783876
NM_133433.4(NIPBL):c.-80+5del rs532015680
NM_133433.4(NIPBL):c.1302G>C (p.Val434=) rs769279620
NM_133433.4(NIPBL):c.1352C>T (p.Ser451Phe) rs1554015273
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.2325A>G (p.Lys775=) rs587783900
NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu) rs80358365
NM_133433.4(NIPBL):c.2798C>G (p.Ala933Gly)
NM_133433.4(NIPBL):c.3583G>A (p.Asp1195Asn) rs149134659
NM_133433.4(NIPBL):c.3616A>G (p.Ile1206Val) rs587783929
NM_133433.4(NIPBL):c.3747A>G (p.Lys1249=) rs2149672538
NM_133433.4(NIPBL):c.4240-7T>C rs587783943
NM_133433.4(NIPBL):c.4422-12del rs797045759
NM_133433.4(NIPBL):c.4535A>T (p.Asn1512Ile) rs587783949
NM_133433.4(NIPBL):c.4674C>T (p.Tyr1558=) rs587783956
NM_133433.4(NIPBL):c.4773G>T (p.Leu1591=) rs587783958
NM_133433.4(NIPBL):c.4776+4A>G rs797045765
NM_133433.4(NIPBL):c.5225+13G>A rs587783963
NM_133433.4(NIPBL):c.5226-14A>G rs587783964
NM_133433.4(NIPBL):c.5272C>A (p.Arg1758=) rs587783965
NM_133433.4(NIPBL):c.5489C>T (p.Ala1830Val)
NM_133433.4(NIPBL):c.5709+7T>G rs587783981
NM_133433.4(NIPBL):c.5710-3T>C
NM_133433.4(NIPBL):c.5796C>T (p.Asn1932=)
NM_133433.4(NIPBL):c.5863-10_5863-3dup rs1554029659
NM_133433.4(NIPBL):c.5863-12_5863-11insAT rs797045774
NM_133433.4(NIPBL):c.5863-12_5863-11insATAT rs797045774
NM_133433.4(NIPBL):c.5863-31TA[11] rs10554564
NM_133433.4(NIPBL):c.5863-31TA[12] rs10554564
NM_133433.4(NIPBL):c.5863-31TA[9] rs10554564
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=) rs761030463
NM_133433.4(NIPBL):c.6087A>G (p.Pro2029=) rs1486059319
NM_133433.4(NIPBL):c.6145A>G (p.Lys2049Glu) rs587783996
NM_133433.4(NIPBL):c.6250-6T>C rs587784001
NM_133433.4(NIPBL):c.6263G>A (p.Cys2088Tyr) rs797045777
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr) rs587784006
NM_133433.4(NIPBL):c.6589+8dup
NM_133433.4(NIPBL):c.6955-9del rs757731487
NM_133433.4(NIPBL):c.7003C>T (p.Arg2335Trp)
NM_133433.4(NIPBL):c.7063A>G (p.Met2355Val) rs2149742243
NM_133433.4(NIPBL):c.7263+4A>C rs797045781
NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val)
NM_133433.4(NIPBL):c.7727A>G (p.Tyr2576Cys) rs80358351
NM_133433.4(NIPBL):c.7860+9T>G rs587784051
NM_133433.4(NIPBL):c.7867C>T (p.Leu2623Phe)
NM_133433.4(NIPBL):c.8225G>T (p.Gly2742Val) rs587784054
NM_133433.4(NIPBL):c.862C>A (p.Pro288Thr) rs546188623
NM_133433.4(NIPBL):c.87A>G (p.Pro29=) rs587784061
NM_133433.4(NIPBL):c.891A>C (p.Leu297=) rs373684382

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