ClinVar Miner

List of variants in gene NIPBL reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 114
Download table as spreadsheet
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.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.3121+11T>G rs457583 0.00941
NM_133433.4(NIPBL):c.5863-30A>G rs199888273 0.00781
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.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.7807A>T (p.Asn2603Tyr) rs138514909 0.00043
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
NM_133433.4(NIPBL):c.1891G>T (p.Val631Leu) rs142820200 0.00032
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.1210C>T (p.Pro404Ser) rs560785308 0.00016
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser) rs368028754 0.00011
NM_133433.4(NIPBL):c.5511A>G (p.Arg1837=) rs146702130 0.00009
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala) rs587783890 0.00005
NM_133433.4(NIPBL):c.4204G>C (p.Glu1402Gln) rs61755039 0.00003
NM_133433.4(NIPBL):c.300G>A (p.Leu100=) rs768550843 0.00002
NM_133433.4(NIPBL):c.5226-4G>A rs370826969 0.00002
NM_133433.4(NIPBL):c.123C>T (p.Leu41=) rs774269226 0.00001
NM_133433.4(NIPBL):c.2910T>C (p.Thr970=) rs1045615108 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.4087+9G>A rs757255852 0.00001
NM_133433.4(NIPBL):c.4561-10T>C rs763125929 0.00001
NM_133433.4(NIPBL):c.7097A>G (p.Gln2366Arg) rs528591545 0.00001
NM_133433.4(NIPBL):c.1026G>A (p.Ala342=)
NM_133433.4(NIPBL):c.1168A>G (p.Ile390Val)
NM_133433.4(NIPBL):c.1222C>T (p.Gln408Ter)
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter) rs80358367
NM_133433.4(NIPBL):c.1378T>C (p.Ser460Pro)
NM_133433.4(NIPBL):c.1413G>A (p.Leu471=)
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.1595G>T (p.Gly532Val)
NM_133433.4(NIPBL):c.1753_1755del (p.Ile585del)
NM_133433.4(NIPBL):c.1808dup (p.Ser604fs) rs727503767
NM_133433.4(NIPBL):c.1920A>G (p.Leu640=)
NM_133433.4(NIPBL):c.1948G>A (p.Glu650Lys)
NM_133433.4(NIPBL):c.2075G>C (p.Arg692Thr)
NM_133433.4(NIPBL):c.2264C>A (p.Pro755His)
NM_133433.4(NIPBL):c.2290A>C (p.Asn764His)
NM_133433.4(NIPBL):c.2424A>G (p.Arg808=)
NM_133433.4(NIPBL):c.2510A>C (p.Gln837Pro)
NM_133433.4(NIPBL):c.2599G>A (p.Glu867Lys)
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter) rs398124466
NM_133433.4(NIPBL):c.2643A>G (p.Pro881=)
NM_133433.4(NIPBL):c.2656C>T (p.Gln886Ter)
NM_133433.4(NIPBL):c.265G>A (p.Glu89Lys)
NM_133433.4(NIPBL):c.2711G>C (p.Arg904Thr)
NM_133433.4(NIPBL):c.2780_2784del (p.Lys927fs)
NM_133433.4(NIPBL):c.3055G>C (p.Asp1019His)
NM_133433.4(NIPBL):c.3340G>A (p.Ala1114Thr)
NM_133433.4(NIPBL):c.3369A>G (p.Arg1123=) rs140344071
NM_133433.4(NIPBL):c.3479C>T (p.Ser1160Phe)
NM_133433.4(NIPBL):c.3540A>G (p.Lys1180=)
NM_133433.4(NIPBL):c.3575-9C>G
NM_133433.4(NIPBL):c.3855+8T>G
NM_133433.4(NIPBL):c.4070G>A (p.Arg1357Lys)
NM_133433.4(NIPBL):c.458+4A>G
NM_133433.4(NIPBL):c.483C>T (p.Ser161=)
NM_133433.4(NIPBL):c.4986C>T (p.Asn1662=)
NM_133433.4(NIPBL):c.5005C>A (p.Leu1669Ile)
NM_133433.4(NIPBL):c.5085A>C (p.Gln1695His)
NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala)
NM_133433.4(NIPBL):c.5241T>G (p.Thr1747=)
NM_133433.4(NIPBL):c.5329-15A>G rs587783968
NM_133433.4(NIPBL):c.5329-8_5329-5del
NM_133433.4(NIPBL):c.5429T>C (p.Leu1810Pro)
NM_133433.4(NIPBL):c.5710-13C>T rs562131143
NM_133433.4(NIPBL):c.5710-22T>C
NM_133433.4(NIPBL):c.5863-23_5863-2del
NM_133433.4(NIPBL):c.5863-31TA[9] rs10554564
NM_133433.4(NIPBL):c.5863-32G>A
NM_133433.4(NIPBL):c.6089A>G (p.Tyr2030Cys)
NM_133433.4(NIPBL):c.618A>G (p.Val206=)
NM_133433.4(NIPBL):c.6316G>T (p.Val2106Leu)
NM_133433.4(NIPBL):c.6528A>G (p.Leu2176=)
NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met) rs1579570362
NM_133433.4(NIPBL):c.6748C>T (p.Gln2250Ter)
NM_133433.4(NIPBL):c.677C>T (p.Pro226Leu)
NM_133433.4(NIPBL):c.6854A>G (p.Gln2285Arg)
NM_133433.4(NIPBL):c.6873dup (p.His2292fs)
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_133433.4(NIPBL):c.6923_6927del (p.Thr2308fs)
NM_133433.4(NIPBL):c.7098G>A (p.Gln2366=)
NM_133433.4(NIPBL):c.7117A>G (p.Thr2373Ala)
NM_133433.4(NIPBL):c.7155C>T (p.Asp2385=)
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133433.4(NIPBL):c.7220G>A (p.Arg2407Gln)
NM_133433.4(NIPBL):c.732T>C (p.Ser244=)
NM_133433.4(NIPBL):c.737A>G (p.Asp246Gly) rs587784042
NM_133433.4(NIPBL):c.73C>T (p.Gln25Ter)
NM_133433.4(NIPBL):c.7485A>G (p.Glu2495=)
NM_133433.4(NIPBL):c.7686-8C>A
NM_133433.4(NIPBL):c.7691T>C (p.Ile2564Thr)
NM_133433.4(NIPBL):c.7745G>A (p.Arg2582Gln)
NM_133433.4(NIPBL):c.7789del (p.Leu2597fs) rs80358368
NM_133433.4(NIPBL):c.7882C>T (p.Leu2628=)
NM_133433.4(NIPBL):c.8249A>G (p.Glu2750Gly)
NM_133433.4(NIPBL):c.832G>A (p.Val278Ile)
NM_133433.4(NIPBL):c.894A>G (p.Gln298=) rs587784064

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.