ClinVar Miner

List of variants studied for Cornelia de Lange syndrome 1 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 98
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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.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.781T>G (p.Ser261Ala) rs16903425 0.01529
NM_133433.4(NIPBL):c.3121+11T>G rs457583 0.00941
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) rs35748854 0.00882
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.-312T>A rs540966156 0.00284
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00280
NM_133433.4(NIPBL):c.4320+14A>G rs377381536 0.00186
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00186
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
NM_133433.4(NIPBL):c.-243A>C rs544681871 0.00057
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.5709+4G>A rs370325589 0.00050
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.5011-13A>G rs13177643 0.00038
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.179A>G (p.Asn60Ser) rs142703446 0.00029
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359 0.00028
NM_133433.4(NIPBL):c.1992C>T (p.Asn664=) rs116049172 0.00019
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=) rs376637245 0.00016
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) rs200440893 0.00014
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=) rs139177541 0.00014
NM_133433.4(NIPBL):c.-307C>T rs377354585 0.00013
NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=) rs149186951 0.00013
NM_133433.4(NIPBL):c.-265A>G rs879291582 0.00011
NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser) rs368028754 0.00011
NM_133433.4(NIPBL):c.4776+12G>A rs199632698 0.00010
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703 0.00009
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=) rs749296628 0.00009
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=) rs147865925 0.00008
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.7047T>C (p.Tyr2349=) rs398124470 0.00006
NM_133433.4(NIPBL):c.*551G>C rs760747084 0.00005
NM_133433.4(NIPBL):c.2137A>G (p.Thr713Ala) rs773534683 0.00005
NM_133433.4(NIPBL):c.-410C>T rs886060554 0.00004
NM_133433.4(NIPBL):c.2926A>G (p.Met976Val) rs749926228 0.00004
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=) rs587783913 0.00004
NM_133433.4(NIPBL):c.689A>G (p.Asn230Ser) rs369282785 0.00004
NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys) rs587784058 0.00004
NM_133433.4(NIPBL):c.*32A>T rs758539444 0.00003
NM_133433.4(NIPBL):c.*545A>G rs886060566 0.00003
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr) rs201482152 0.00003
NM_133433.4(NIPBL):c.2856G>A (p.Ala952=) rs371566938 0.00003
NM_133433.4(NIPBL):c.4204G>C (p.Glu1402Gln) rs61755039 0.00003
NM_133433.4(NIPBL):c.8139T>C (p.Ile2713=) rs1187325987 0.00003
NM_133433.4(NIPBL):c.1228A>G (p.Ile410Val) rs141010980 0.00002
NM_133433.4(NIPBL):c.4041A>G (p.Thr1347=) rs373206831 0.00002
NM_133433.4(NIPBL):c.4699C>A (p.Gln1567Lys) rs780708835 0.00002
NM_133433.4(NIPBL):c.*351G>A rs185780527 0.00001
NM_133433.4(NIPBL):c.-379G>A rs886060555 0.00001
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=) rs555179389 0.00001
NM_133433.4(NIPBL):c.1593G>A (p.Thr531=) rs760769176 0.00001
NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser) rs144289137 0.00001
NM_133433.4(NIPBL):c.2501G>A (p.Arg834Gln) rs757394370 0.00001
NM_133433.4(NIPBL):c.3102A>G (p.Lys1034=) rs765887558 0.00001
NM_133433.4(NIPBL):c.313A>G (p.Asn105Asp) rs376768802 0.00001
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836 0.00001
NM_133433.4(NIPBL):c.3487C>T (p.Pro1163Ser) rs761353689 0.00001
NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=) rs143252734 0.00001
NM_133433.4(NIPBL):c.7362C>T (p.Asp2454=) rs886060559 0.00001
NM_133433.4(NIPBL):c.7411-15G>A rs374348403 0.00001
NM_005445.4(SMC3):c.1419G>C (p.Trp473Cys) rs1861180589
NM_133433.4(NIPBL):c.*142G>C rs886060562
NM_133433.4(NIPBL):c.*354T>C rs1755262500
NM_133433.4(NIPBL):c.-338C>T rs886060556
NM_133433.4(NIPBL):c.-424T>C rs886060552
NM_133433.4(NIPBL):c.-428G>C rs886060551
NM_133433.4(NIPBL):c.-80+11G>C rs1257470313
NM_133433.4(NIPBL):c.1058A>G (p.Lys353Arg) rs1743395526
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile) rs746183321
NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu) rs80358365
NM_133433.4(NIPBL):c.2864A>C (p.Asn955Thr) rs1744758389
NM_133433.4(NIPBL):c.3949A>G (p.Ile1317Val) rs1747443386
NM_133433.4(NIPBL):c.407G>A (p.Ser136Asn) rs1741623090
NM_133433.4(NIPBL):c.4321-15A>G rs587783946
NM_133433.4(NIPBL):c.5168G>A (p.Arg1723Gln) rs886060558
NM_133433.4(NIPBL):c.5710-13C>T rs562131143
NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=) rs761030463
NM_133433.4(NIPBL):c.6369A>T (p.Gln2123His) rs369295272
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=) rs777430704
NM_133433.4(NIPBL):c.7465G>A (p.Glu2489Lys) rs1561224805
NM_133433.4(NIPBL):c.7843G>C (p.Val2615Leu) rs886060560
NM_133433.4(NIPBL):c.8236G>A (p.Gly2746Ser) rs886060561
NM_133433.4(NIPBL):c.873A>C (p.Ser291=) rs1743370604

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