ClinVar Miner

List of variants in gene NIPBL reported as uncertain significance for Inborn genetic diseases

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Gene type:
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Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359 0.00028
NM_133433.4(NIPBL):c.6954+3A>G rs769439754 0.00006
NM_133433.4(NIPBL):c.310C>G (p.Pro104Ala) rs772009624 0.00004
NM_133433.4(NIPBL):c.2511G>C (p.Gln837His) rs201163469 0.00003
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val) rs200991784 0.00003
NM_133433.4(NIPBL):c.3049A>C (p.Ile1017Leu) rs146714879 0.00003
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys) rs587784058 0.00003
NM_133433.4(NIPBL):c.869G>A (p.Gly290Asp) rs1359332855 0.00003
NM_133433.4(NIPBL):c.5239A>G (p.Thr1747Ala) rs1179450261 0.00002
NM_133433.4(NIPBL):c.7765C>T (p.His2589Tyr) rs1423499316 0.00002
NM_133433.4(NIPBL):c.1262C>T (p.Ser421Leu) rs758313905 0.00001
NM_133433.4(NIPBL):c.1279G>C (p.Ala427Pro) rs1743427994 0.00001
NM_133433.4(NIPBL):c.1793A>C (p.Glu598Ala) rs1744576660 0.00001
NM_133433.4(NIPBL):c.2042C>G (p.Thr681Arg) rs1452597230 0.00001
NM_133433.4(NIPBL):c.2261G>T (p.Arg754Leu) rs748268539 0.00001
NM_133433.4(NIPBL):c.2436G>C (p.Glu812Asp) rs746297367 0.00001
NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu) rs80358365 0.00001
NM_133433.4(NIPBL):c.2701A>C (p.Asn901His) rs918012033 0.00001
NM_133433.4(NIPBL):c.2852G>A (p.Gly951Asp) rs1483295105 0.00001
NM_133433.4(NIPBL):c.3068A>G (p.Lys1023Arg) rs1580399961 0.00001
NM_133433.4(NIPBL):c.306G>T (p.Arg102Ser) rs778661285 0.00001
NM_133433.4(NIPBL):c.313A>G (p.Asn105Asp) rs376768802 0.00001
NM_133433.4(NIPBL):c.3475T>G (p.Tyr1159Asp) rs369496238 0.00001
NM_133433.4(NIPBL):c.3742A>G (p.Ile1248Val) rs990243890 0.00001
NM_133433.4(NIPBL):c.4321G>A (p.Val1441Ile) rs727503769 0.00001
NM_133433.4(NIPBL):c.4534A>G (p.Asn1512Asp) rs1383095181 0.00001
NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala) rs749567855 0.00001
NM_133433.4(NIPBL):c.5575-5T>C rs780152442 0.00001
NM_133433.4(NIPBL):c.6557A>G (p.Glu2186Gly) rs398124469 0.00001
NM_133433.4(NIPBL):c.6976A>G (p.Met2326Val) rs1161024468 0.00001
NM_133433.4(NIPBL):c.7097A>G (p.Gln2366Arg) rs528591545 0.00001
NM_133433.4(NIPBL):c.7123C>A (p.Leu2375Ile) rs1753663268 0.00001
NM_133433.4(NIPBL):c.7838G>A (p.Ser2613Asn) rs1754601900 0.00001
NM_133433.4(NIPBL):c.8050-5T>A rs1755201534 0.00001
NM_133433.4(NIPBL):c.8258G>A (p.Arg2753His) rs1360836577 0.00001
NM_133433.4(NIPBL):c.1016G>A (p.Ser339Asn) rs2479124025
NM_133433.4(NIPBL):c.1148G>A (p.Ser383Asn) rs1232666426
NM_133433.4(NIPBL):c.1646G>T (p.Gly549Val) rs2477918862
NM_133433.4(NIPBL):c.1690A>G (p.Ile564Val) rs1267072334
NM_133433.4(NIPBL):c.184G>C (p.Val62Leu) rs2478987184
NM_133433.4(NIPBL):c.1883A>C (p.Asn628Thr)
NM_133433.4(NIPBL):c.2022T>G (p.Asn674Lys)
NM_133433.4(NIPBL):c.2076A>C (p.Arg692Ser) rs1191498766
NM_133433.4(NIPBL):c.217T>G (p.Ser73Ala)
NM_133433.4(NIPBL):c.2194A>G (p.Arg732Gly) rs2477928063
NM_133433.4(NIPBL):c.2294G>C (p.Arg765Thr)
NM_133433.4(NIPBL):c.2525G>T (p.Arg842Ile) rs1188866520
NM_133433.4(NIPBL):c.265G>A (p.Glu89Lys) rs1000583856
NM_133433.4(NIPBL):c.2771A>G (p.Asn924Ser) rs2477937978
NM_133433.4(NIPBL):c.2798C>G (p.Ala933Gly) rs139833594
NM_133433.4(NIPBL):c.2956G>A (p.Val986Ile) rs2477941205
NM_133433.4(NIPBL):c.3157C>G (p.Pro1053Ala)
NM_133433.4(NIPBL):c.3358C>A (p.Arg1120Ser) rs775123425
NM_133433.4(NIPBL):c.3433C>T (p.Arg1145Cys)
NM_133433.4(NIPBL):c.3512A>T (p.Lys1171Ile)
NM_133433.4(NIPBL):c.3542G>A (p.Arg1181Lys) rs776450648
NM_133433.4(NIPBL):c.3681T>G (p.Ile1227Met)
NM_133433.4(NIPBL):c.3775A>G (p.Thr1259Ala)
NM_133433.4(NIPBL):c.409C>T (p.Pro137Ser) rs777676457
NM_133433.4(NIPBL):c.4147A>G (p.Ile1383Val)
NM_133433.4(NIPBL):c.4240G>T (p.Val1414Phe) rs2478165788
NM_133433.4(NIPBL):c.4435G>A (p.Asp1479Asn)
NM_133433.4(NIPBL):c.450C>A (p.Ser150Arg) rs2479027699
NM_133433.4(NIPBL):c.4714A>G (p.Thr1572Ala) rs943147398
NM_133433.4(NIPBL):c.4909A>G (p.Ile1637Val)
NM_133433.4(NIPBL):c.5051C>T (p.Thr1684Ile) rs774109272
NM_133433.4(NIPBL):c.5192T>C (p.Ile1731Thr) rs1431242540
NM_133433.4(NIPBL):c.5230A>G (p.Asn1744Asp) rs773164199
NM_133433.4(NIPBL):c.524C>T (p.Pro175Leu) rs1224541280
NM_133433.4(NIPBL):c.5808+6_5808+8del rs756996385
NM_133433.4(NIPBL):c.604C>G (p.Gln202Glu) rs762487890
NM_133433.4(NIPBL):c.6143C>G (p.Ala2048Gly) rs1554031795
NM_133433.4(NIPBL):c.6716C>A (p.Thr2239Asn) rs2478617976
NM_133433.4(NIPBL):c.6752C>A (p.Ala2251Glu)
NM_133433.4(NIPBL):c.6897C>A (p.His2299Gln)
NM_133433.4(NIPBL):c.68T>G (p.Leu23Arg)
NM_133433.4(NIPBL):c.7009A>C (p.Lys2337Gln)
NM_133433.4(NIPBL):c.713A>G (p.Asn238Ser) rs2479089475
NM_133433.4(NIPBL):c.7276A>T (p.Thr2426Ser) rs2478699836
NM_133433.4(NIPBL):c.7553A>T (p.Asp2518Val) rs756187678
NM_133433.4(NIPBL):c.7792C>T (p.Arg2598Trp) rs1754597682
NM_133433.4(NIPBL):c.7867C>A (p.Leu2623Ile)
NM_133433.4(NIPBL):c.7967G>T (p.Gly2656Val) rs2478758676
NM_133433.4(NIPBL):c.8030G>A (p.Arg2677Lys)
NM_133433.4(NIPBL):c.8054T>C (p.Leu2685Ser)
NM_133433.4(NIPBL):c.8095G>T (p.Ala2699Ser)
NM_133433.4(NIPBL):c.835T>A (p.Cys279Ser) rs767774437
NM_133433.4(NIPBL):c.851G>A (p.Ser284Asn)

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