ClinVar Miner

List of variants in gene NIPBL reported as likely benign for not specified

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Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.3575-17A>G rs78827246 0.12109
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.3502+17A>C rs144725401 0.00230
NM_133433.4(NIPBL):c.4320+14A>G rs377381536 0.00186
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
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.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.2673C>T (p.Asp891=) rs376637245 0.00016
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.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.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.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.6400C>T (p.Leu2134=) rs372730081 0.00001
NM_133433.4(NIPBL):c.7463A>G (p.Asn2488Ser) rs794727675 0.00001
NM_133433.4(NIPBL):c.-80+5del rs532015680
NM_133433.4(NIPBL):c.1302G>C (p.Val434=) rs769279620
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu) rs80358365
NM_133433.4(NIPBL):c.4240-7T>C rs587783943
NM_133433.4(NIPBL):c.4535A>T (p.Asn1512Ile) rs587783949
NM_133433.4(NIPBL):c.5226-14A>G rs587783964
NM_133433.4(NIPBL):c.5796C>T (p.Asn1932=)
NM_133433.4(NIPBL):c.5863-10_5863-3dup rs1554029659
NM_133433.4(NIPBL):c.5863-31TA[11] rs10554564
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=) rs761030463
NM_133433.4(NIPBL):c.6250-6T>C rs587784001
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr) rs587784006
NM_133433.4(NIPBL):c.7727A>G (p.Tyr2576Cys) rs80358351
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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