ClinVar Miner

List of variants in gene NIPBL reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
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.-312T>A rs540966156 0.00284
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.2349A>G (p.Lys783=) rs141851878 0.00076
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.*334G>A rs181989563 0.00040
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.5101T>C (p.Ser1701Pro) rs139819353 0.00024
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) rs149629686 0.00019
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) rs200440893 0.00014
NM_133433.4(NIPBL):c.2352A>G (p.Gln784=) rs61755038 0.00011
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) rs199546324 0.00006
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=) rs376448686 0.00006
NM_133433.4(NIPBL):c.5472G>A (p.Ser1824=) rs369177620 0.00004
NM_133433.4(NIPBL):c.5018G>A (p.Arg1673His) rs770286768 0.00003
NM_133433.4(NIPBL):c.2479A>G (p.Arg827Gly) rs1284101914 0.00001
NM_133433.4(NIPBL):c.2703T>C (p.Asn901=) rs774346043 0.00001
NM_133433.4(NIPBL):c.3630G>A (p.Leu1210=) rs372752190 0.00001
NM_133433.4(NIPBL):c.4516T>C (p.Ser1506Pro) rs1056274601 0.00001
NM_133433.4(NIPBL):c.461G>A (p.Arg154Gln) rs200692598 0.00001
NM_133433.4(NIPBL):c.-415del
NM_133433.4(NIPBL):c.-416dup rs886060553
NM_133433.4(NIPBL):c.-79-1563_-79-1534del rs1395841873
NM_133433.4(NIPBL):c.-79-1563_-79-1540del
NM_133433.4(NIPBL):c.-79-1564GC[6] rs1554010277
NM_133433.4(NIPBL):c.-79-1569_-79-1562del
NM_133433.4(NIPBL):c.-79-1599TG[14]
NM_133433.4(NIPBL):c.-79-1599TG[15]
NM_133433.4(NIPBL):c.-79-1599TG[17]
NM_133433.4(NIPBL):c.-79-1599TG[26]
NM_133433.4(NIPBL):c.-80+5del rs532015680
NM_133433.4(NIPBL):c.1332T>C (p.Ala444=)
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.1501C>G (p.Pro501Ala)
NM_133433.4(NIPBL):c.1604C>T (p.Ser535Leu)
NM_133433.4(NIPBL):c.1677G>A (p.Gln559=) rs1580394271
NM_133433.4(NIPBL):c.200A>G (p.His67Arg) rs1388552505
NM_133433.4(NIPBL):c.2228G>A (p.Arg743His)
NM_133433.4(NIPBL):c.2389C>T (p.Arg797Ter) rs587783901
NM_133433.4(NIPBL):c.2390G>A (p.Arg797Gln)
NM_133433.4(NIPBL):c.2648C>T (p.Ser883Phe)
NM_133433.4(NIPBL):c.3211A>G (p.Met1071Val) rs2149662599
NM_133433.4(NIPBL):c.3286A>G (p.Ser1096Gly)
NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter) rs80358374
NM_133433.4(NIPBL):c.3453G>A (p.Pro1151=)
NM_133433.4(NIPBL):c.359G>C (p.Gly120Ala) rs2149607016
NM_133433.4(NIPBL):c.3780C>A (p.Asp1260Glu)
NM_133433.4(NIPBL):c.3874G>T (p.Glu1292Ter) rs587783936
NM_133433.4(NIPBL):c.3877G>A (p.Glu1293Lys)
NM_133433.4(NIPBL):c.3914C>G (p.Thr1305Arg) rs1419407546
NM_133433.4(NIPBL):c.444A>C (p.Ser148=)
NM_133433.4(NIPBL):c.4536T>C (p.Asn1512=)
NM_133433.4(NIPBL):c.4602T>A (p.Ala1534=)
NM_133433.4(NIPBL):c.4602T>C (p.Ala1534=)
NM_133433.4(NIPBL):c.5225+2_5225+5del
NM_133433.4(NIPBL):c.5372A>G (p.Lys1791Arg) rs1447433878
NM_133433.4(NIPBL):c.5772A>C (p.Glu1924Asp)
NM_133433.4(NIPBL):c.5891A>G (p.Tyr1964Cys) rs1467853729
NM_133433.4(NIPBL):c.6163G>A (p.Val2055Ile)
NM_133433.4(NIPBL):c.6604C>A (p.Gln2202Lys) rs1753197620
NM_133433.4(NIPBL):c.6726AGA[2] (p.Glu2244del) rs2149737108
NM_133433.4(NIPBL):c.677C>T (p.Pro226Leu)
NM_133433.4(NIPBL):c.7166G>T (p.Ser2389Ile) rs371336448
NM_133433.4(NIPBL):c.7168G>T (p.Ala2390Ser)
NM_133433.4(NIPBL):c.7462A>G (p.Asn2488Asp)
NM_133433.4(NIPBL):c.7593T>C (p.Ala2531=)
NM_133433.4(NIPBL):c.768T>C (p.Ser256=)
NM_133433.4(NIPBL):c.8049+30G>A
NM_133433.4(NIPBL):c.8243G>A (p.Trp2748Ter)
NM_133433.4(NIPBL):c.8274dup (p.Leu2759fs) rs1554036165
NM_133433.4(NIPBL):c.8311A>G (p.Ile2771Val)
NM_133433.4(NIPBL):c.834A>G (p.Val278=) rs377714862
NM_133433.4(NIPBL):c.8368C>T (p.Gln2790Ter) rs2149761269

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