ClinVar Miner

List of variants in gene NIPBL reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 107
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HGVS dbSNP
NM_133433.3(NIPBL):c.5863-12_5863-11dupAT rs10554564
NM_133433.4(NIPBL):c.1017T>C (p.Ser339=) rs886043120
NM_133433.4(NIPBL):c.1077A>G (p.Thr359=) rs767162047
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703
NM_133433.4(NIPBL):c.1221A>G (p.Pro407=) rs886042232
NM_133433.4(NIPBL):c.126T>C (p.Phe42=) rs727504046
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter) rs80358367
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=) rs555179389
NM_133433.4(NIPBL):c.1456A>G (p.Ile486Val) rs886044139
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.1526C>G (p.Ser509Cys) rs80358352
NM_133433.4(NIPBL):c.1582A>T (p.Thr528Ser) rs794727009
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) rs199546324
NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter) rs587783892
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro) rs149892167
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471
NM_133433.4(NIPBL):c.2081A>G (p.Glu694Gly) rs144812404
NM_133433.4(NIPBL):c.2171C>T (p.Thr724Ile) rs886042385
NM_133433.4(NIPBL):c.2218_2250del (p.Gly740_Lys750del) rs761493578
NM_133433.4(NIPBL):c.2219G>A (p.Gly740Asp) rs148420552
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.4(NIPBL):c.2439A>C (p.Ser813=) rs886043800
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) rs293756
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter) rs398124466
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) rs149629686
NM_133433.4(NIPBL):c.2626dup (p.Asp876fs) rs398124467
NM_133433.4(NIPBL):c.2727T>C (p.Gly909=) rs148394805
NM_133433.4(NIPBL):c.2743A>G (p.Ser915Gly) rs794727010
NM_133433.4(NIPBL):c.2945C>T (p.Pro982Leu) rs886042816
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445
NM_133433.4(NIPBL):c.3084dup (p.Lys1029Ter) rs1561119439
NM_133433.4(NIPBL):c.3481C>T (p.Pro1161Ser) rs557147929
NM_133433.4(NIPBL):c.3575-17A>G rs78827246
NM_133433.4(NIPBL):c.3659C>T (p.Ala1220Val) rs1360432003
NM_133433.4(NIPBL):c.3855+2T>C rs886043046
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.4(NIPBL):c.3938C>A (p.Thr1313Lys) rs886042218
NM_133433.4(NIPBL):c.3978T>C (p.Ala1326=) rs886043018
NM_133433.4(NIPBL):c.4161T>C (p.Tyr1387=) rs752419634
NM_133433.4(NIPBL):c.4240-14T>G rs298972
NM_133433.4(NIPBL):c.42G>A (p.Ala14=) rs727504045
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu) rs727503769
NM_133433.4(NIPBL):c.4421+7A>G rs76297333
NM_133433.4(NIPBL):c.4429A>C (p.Ser1477Arg) rs1554022448
NM_133433.4(NIPBL):c.4520C>T (p.Ser1507Leu) rs794727348
NM_133433.4(NIPBL):c.4561-9T>A rs79924167
NM_133433.4(NIPBL):c.4573G>A (p.Val1525Ile) rs1351097452
NM_133433.4(NIPBL):c.458+7T>C rs200829209
NM_133433.4(NIPBL):c.4683G>C (p.Leu1561=) rs756897581
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654
NM_133433.4(NIPBL):c.4760_4763del (p.Ser1586_Leu1587insTer) rs1554024009
NM_133433.4(NIPBL):c.4907G>T (p.Arg1636Leu) rs886042731
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro) rs139819353
NM_133433.4(NIPBL):c.5249A>G (p.Tyr1750Cys) rs374265736
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter) rs80358362
NM_133433.4(NIPBL):c.5511A>G (p.Arg1837=) rs146702130
NM_133433.4(NIPBL):c.5786A>G (p.Lys1929Arg) rs374294679
NM_133433.4(NIPBL):c.5808+2T>G rs794727556
NM_133433.4(NIPBL):c.5863-10G>A
NM_133433.4(NIPBL):c.5863-18A>G rs1393586617
NM_133433.4(NIPBL):c.5863-31TA[12] rs10554564
NM_133433.4(NIPBL):c.5863-31TA[9] rs10554564
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200
NM_133433.4(NIPBL):c.592del (p.His198fs) rs886043629
NM_133433.4(NIPBL):c.6057C>T (p.Leu2019=) rs140907869
NM_133433.4(NIPBL):c.6065A>G (p.Lys2022Arg) rs886044634
NM_133433.4(NIPBL):c.6082C>T (p.Gln2028Ter) rs886044351
NM_133433.4(NIPBL):c.6108+1G>C rs587783994
NM_133433.4(NIPBL):c.6109-3T>C rs145778995
NM_133433.4(NIPBL):c.6156G>T (p.Glu2052Asp) rs886039531
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035
NM_133433.4(NIPBL):c.6227_6229TCA[2] (p.Ile2078del) rs1554031820
NM_133433.4(NIPBL):c.6285T>G (p.Val2095=) rs886044532
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=) rs147865925
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr) rs587784006
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=) rs372730081
NM_133433.4(NIPBL):c.6557A>G (p.Glu2186Gly) rs398124469
NM_133433.4(NIPBL):c.6558A>G (p.Glu2186=) rs794727606
NM_133433.4(NIPBL):c.6589+9A>T rs370709104
NM_133433.4(NIPBL):c.6590-9C>T
NM_133433.4(NIPBL):c.6595G>C (p.Ala2199Pro) rs794727614
NM_133433.4(NIPBL):c.6701T>G (p.Leu2234Ter) rs727504047
NM_133433.4(NIPBL):c.6763T>A (p.Trp2255Arg) rs794727613
NM_133433.4(NIPBL):c.6955-9del rs757731487
NM_133433.4(NIPBL):c.697A>G (p.Asn233Asp) rs727504038
NM_133433.4(NIPBL):c.6981C>T (p.Gly2327=) rs1554033395
NM_133433.4(NIPBL):c.7047T>G (p.Tyr2349Ter) rs398124470
NM_133433.4(NIPBL):c.7175G>A (p.Cys2392Tyr) rs886042231
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter) rs398124471
NM_133433.4(NIPBL):c.7330G>A (p.Glu2444Lys) rs1554034440
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala) rs185745349
NM_133433.4(NIPBL):c.7463A>G (p.Asn2488Ser) rs794727675
NM_133433.4(NIPBL):c.7602C>T (p.Ile2534=) rs398124472
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.772-8A>G rs398124473
NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=) rs371347218
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015
NM_133433.4(NIPBL):c.7893T>C (p.Asp2631=) rs886042552
NM_133433.4(NIPBL):c.862C>A (p.Pro288Thr) rs546188623
NM_133433.4(NIPBL):c.927delinsACA (p.Asp309fs) rs1561101302

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