ClinVar Miner

List of variants studied for Cornelia de Lange syndrome 1 by Fulgent Genetics, Fulgent Genetics

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ClinVar version:
Total variants: 203
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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.3015A>G (p.Leu1005=) rs1669445 0.03530
NM_133433.4(NIPBL):c.4421+7A>G rs76297333 0.02109
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.294C>T (p.Ala98=) rs142184978 0.00134
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) rs149629686 0.00017
NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser) rs190086412 0.00009
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala) rs185745349 0.00009
NM_133433.4(NIPBL):c.1708A>G (p.Ile570Val) rs999526286 0.00007
NM_133433.4(NIPBL):c.5574+5G>T rs745769829 0.00007
NM_133433.4(NIPBL):c.5944A>C (p.Ile1982Leu) rs370593530 0.00007
NM_133433.4(NIPBL):c.941T>C (p.Ile314Thr) rs368151265 0.00007
NM_133433.4(NIPBL):c.2219G>A (p.Gly740Asp) rs148420552 0.00006
NM_133433.4(NIPBL):c.2137A>G (p.Thr713Ala) rs773534683 0.00005
NM_133433.4(NIPBL):c.3851A>G (p.Asn1284Ser) rs143152112 0.00005
NM_133433.4(NIPBL):c.614C>T (p.Ser205Leu) rs576532771 0.00005
NM_133433.4(NIPBL):c.169A>G (p.Arg57Gly) rs539552810 0.00004
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro) rs149892167 0.00004
NM_133433.4(NIPBL):c.310C>G (p.Pro104Ala) rs772009624 0.00004
NM_133433.4(NIPBL):c.2374C>T (p.Arg792Trp) rs766108812 0.00003
NM_133433.4(NIPBL):c.3049A>C (p.Ile1017Leu) rs146714879 0.00003
NM_133433.4(NIPBL):c.3295G>A (p.Ala1099Thr) rs752294556 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.2926A>G (p.Met976Val) rs749926228 0.00002
NM_133433.4(NIPBL):c.7586A>G (p.Asn2529Ser) rs375928290 0.00002
NM_133433.4(NIPBL):c.8329G>T (p.Ala2777Ser) rs200872976 0.00002
NM_133433.4(NIPBL):c.923G>A (p.Arg308Gln) rs988018153 0.00002
NM_133433.4(NIPBL):c.1262C>T (p.Ser421Leu) rs758313905 0.00001
NM_133433.4(NIPBL):c.1349C>T (p.Thr450Ile) rs759134070 0.00001
NM_133433.4(NIPBL):c.1456A>G (p.Ile486Val) rs886044139 0.00001
NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser) rs144289137 0.00001
NM_133433.4(NIPBL):c.193C>G (p.Leu65Val) rs925563626 0.00001
NM_133433.4(NIPBL):c.230+10A>T rs1342924796 0.00001
NM_133433.4(NIPBL):c.2356A>G (p.Thr786Ala) rs1040265113 0.00001
NM_133433.4(NIPBL):c.2423G>A (p.Arg808Gln) rs142574933 0.00001
NM_133433.4(NIPBL):c.2436G>C (p.Glu812Asp) rs746297367 0.00001
NM_133433.4(NIPBL):c.2701A>C (p.Asn901His) rs918012033 0.00001
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu) rs587783916 0.00001
NM_133433.4(NIPBL):c.332G>A (p.Ser111Asn) rs587783920 0.00001
NM_133433.4(NIPBL):c.3340G>A (p.Ala1114Thr) rs534319970 0.00001
NM_133433.4(NIPBL):c.385T>C (p.Ser129Pro) rs141976717 0.00001
NM_133433.4(NIPBL):c.4516T>C (p.Ser1506Pro) rs1056274601 0.00001
NM_133433.4(NIPBL):c.4907G>T (p.Arg1636Leu) rs886042731 0.00001
NM_133433.4(NIPBL):c.4921-4A>G rs368263380 0.00001
NM_133433.4(NIPBL):c.5054C>T (p.Thr1685Ile) rs775077572 0.00001
NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala) rs749567855 0.00001
NM_133433.4(NIPBL):c.6577A>G (p.Ile2193Val) rs1368217611 0.00001
NM_133433.4(NIPBL):c.7244A>G (p.Asn2415Ser) rs766934075 0.00001
NM_133433.4(NIPBL):c.7462A>G (p.Asn2488Asp) rs756243240 0.00001
NM_133433.4(NIPBL):c.7517G>A (p.Arg2506His) rs761787560 0.00001
NM_133433.4(NIPBL):c.7745G>A (p.Arg2582Gln) rs1561227446 0.00001
NM_133433.4(NIPBL):c.1103C>T (p.Ser368Leu)
NM_133433.4(NIPBL):c.1207A>G (p.Thr403Ala)
NM_133433.4(NIPBL):c.1211C>T (p.Pro404Leu)
NM_133433.4(NIPBL):c.1229T>C (p.Ile410Thr) rs546539357
NM_133433.4(NIPBL):c.128A>G (p.Asn43Ser)
NM_133433.4(NIPBL):c.1348A>G (p.Thr450Ala)
NM_133433.4(NIPBL):c.1362G>T (p.Gln454His)
NM_133433.4(NIPBL):c.1394T>C (p.Ile465Thr)
NM_133433.4(NIPBL):c.149T>G (p.Val50Gly)
NM_133433.4(NIPBL):c.1586G>A (p.Gly529Asp)
NM_133433.4(NIPBL):c.164C>T (p.Ala55Val)
NM_133433.4(NIPBL):c.166T>C (p.Cys56Arg)
NM_133433.4(NIPBL):c.1690A>G (p.Ile564Val) rs1267072334
NM_133433.4(NIPBL):c.1706A>G (p.Glu569Gly)
NM_133433.4(NIPBL):c.1735T>A (p.Ser579Thr)
NM_133433.4(NIPBL):c.1832G>T (p.Ser611Ile)
NM_133433.4(NIPBL):c.184G>C (p.Val62Leu) rs2478987184
NM_133433.4(NIPBL):c.1857A>G (p.Arg619=)
NM_133433.4(NIPBL):c.1891G>C (p.Val631Leu)
NM_133433.4(NIPBL):c.1937C>A (p.Thr646Asn)
NM_133433.4(NIPBL):c.1945G>A (p.Glu649Lys)
NM_133433.4(NIPBL):c.1991A>T (p.Asn664Ile)
NM_133433.4(NIPBL):c.200A>G (p.His67Arg) rs1388552505
NM_133433.4(NIPBL):c.2011C>A (p.Pro671Thr)
NM_133433.4(NIPBL):c.2078C>T (p.Ser693Leu)
NM_133433.4(NIPBL):c.209A>G (p.Asn70Ser) rs2149599601
NM_133433.4(NIPBL):c.2164C>A (p.Pro722Thr)
NM_133433.4(NIPBL):c.2164C>T (p.Pro722Ser)
NM_133433.4(NIPBL):c.2261G>A (p.Arg754Gln)
NM_133433.4(NIPBL):c.2334A>C (p.Glu778Asp)
NM_133433.4(NIPBL):c.2375G>C (p.Arg792Pro) rs376912534
NM_133433.4(NIPBL):c.2456A>G (p.Asp819Gly)
NM_133433.4(NIPBL):c.2457TAA[1] (p.Asn820del) rs769307619
NM_133433.4(NIPBL):c.2480G>A (p.Arg827Lys) rs372453541
NM_133433.4(NIPBL):c.2556T>G (p.Asn852Lys)
NM_133433.4(NIPBL):c.2573C>T (p.Ser858Phe)
NM_133433.4(NIPBL):c.2576A>T (p.Asp859Val)
NM_133433.4(NIPBL):c.2612G>A (p.Arg871Lys)
NM_133433.4(NIPBL):c.2623G>A (p.Gly875Arg)
NM_133433.4(NIPBL):c.2709A>T (p.Ser903=) rs1256938703
NM_133433.4(NIPBL):c.2737C>T (p.Pro913Ser)
NM_133433.4(NIPBL):c.2743A>C (p.Ser915Arg)
NM_133433.4(NIPBL):c.2794A>G (p.Lys932Glu)
NM_133433.4(NIPBL):c.2810A>G (p.Asn937Ser)
NM_133433.4(NIPBL):c.2813A>G (p.Lys938Arg)
NM_133433.4(NIPBL):c.2839G>T (p.Gly947Trp)
NM_133433.4(NIPBL):c.2888G>T (p.Arg963Met)
NM_133433.4(NIPBL):c.2914G>A (p.Glu972Lys)
NM_133433.4(NIPBL):c.2927T>C (p.Met976Thr)
NM_133433.4(NIPBL):c.2968G>A (p.Gly990Arg)
NM_133433.4(NIPBL):c.3002C>T (p.Pro1001Leu)
NM_133433.4(NIPBL):c.3028T>A (p.Leu1010Met)
NM_133433.4(NIPBL):c.302C>T (p.Ala101Val)
NM_133433.4(NIPBL):c.3042G>C (p.Gln1014His)
NM_133433.4(NIPBL):c.3064G>A (p.Asp1022Asn)
NM_133433.4(NIPBL):c.3241G>C (p.Glu1081Gln)
NM_133433.4(NIPBL):c.3288TGA[1] (p.Asp1097del)
NM_133433.4(NIPBL):c.3411AAG[1] (p.Arg1139del)
NM_133433.4(NIPBL):c.3415A>T (p.Arg1139Trp)
NM_133433.4(NIPBL):c.3433C>T (p.Arg1145Cys)
NM_133433.4(NIPBL):c.3439C>G (p.Arg1147Gly)
NM_133433.4(NIPBL):c.3480TCC[2] (p.Pro1163del) rs750517408
NM_133433.4(NIPBL):c.3502+8A>G
NM_133433.4(NIPBL):c.3512A>T (p.Lys1171Ile)
NM_133433.4(NIPBL):c.3647T>C (p.Met1216Thr)
NM_133433.4(NIPBL):c.3664+4A>G
NM_133433.4(NIPBL):c.3706C>T (p.His1236Tyr)
NM_133433.4(NIPBL):c.3757A>G (p.Ile1253Val)
NM_133433.4(NIPBL):c.3863A>T (p.Asp1288Val)
NM_133433.4(NIPBL):c.3868GAA[3] (p.Glu1293del) rs773996562
NM_133433.4(NIPBL):c.3943A>G (p.Ile1315Val)
NM_133433.4(NIPBL):c.3990G>C (p.Glu1330Asp)
NM_133433.4(NIPBL):c.4052A>G (p.Gln1351Arg)
NM_133433.4(NIPBL):c.406A>C (p.Ser136Arg)
NM_133433.4(NIPBL):c.4100G>A (p.Ser1367Asn)
NM_133433.4(NIPBL):c.412_413delinsCT (p.Ala138Leu)
NM_133433.4(NIPBL):c.4240-7T>C rs587783943
NM_133433.4(NIPBL):c.4421+4A>C
NM_133433.4(NIPBL):c.4429A>C (p.Ser1477Arg) rs1554022448
NM_133433.4(NIPBL):c.466G>A (p.Val156Met)
NM_133433.4(NIPBL):c.466G>T (p.Val156Leu)
NM_133433.4(NIPBL):c.4777-5T>C
NM_133433.4(NIPBL):c.4884A>C (p.Lys1628Asn)
NM_133433.4(NIPBL):c.4935A>C (p.Glu1645Asp)
NM_133433.4(NIPBL):c.506A>G (p.Gln169Arg)
NM_133433.4(NIPBL):c.512A>G (p.Asn171Ser)
NM_133433.4(NIPBL):c.5150T>C (p.Met1717Thr)
NM_133433.4(NIPBL):c.5153A>G (p.His1718Arg)
NM_133433.4(NIPBL):c.5230A>G (p.Asn1744Asp) rs773164199
NM_133433.4(NIPBL):c.5315T>C (p.Ile1772Thr)
NM_133433.4(NIPBL):c.5372A>G (p.Lys1791Arg) rs1447433878
NM_133433.4(NIPBL):c.5416A>G (p.Ile1806Val)
NM_133433.4(NIPBL):c.5462T>C (p.Met1821Thr)
NM_133433.4(NIPBL):c.5510G>T (p.Arg1837Leu)
NM_133433.4(NIPBL):c.5681G>T (p.Arg1894Leu) rs2149702419
NM_133433.4(NIPBL):c.5709+20A>G
NM_133433.4(NIPBL):c.5762A>T (p.Asn1921Ile) rs587783983
NM_133433.4(NIPBL):c.5791T>G (p.Leu1931Val)
NM_133433.4(NIPBL):c.5797A>G (p.Ile1933Val)
NM_133433.4(NIPBL):c.5862C>T (p.Asn1954=)
NM_133433.4(NIPBL):c.5863-15T>A
NM_133433.4(NIPBL):c.5915C>T (p.Thr1972Ile)
NM_133433.4(NIPBL):c.604C>G (p.Gln202Glu) rs762487890
NM_133433.4(NIPBL):c.6084A>G (p.Gln2028=)
NM_133433.4(NIPBL):c.6098C>G (p.Thr2033Ser) rs2478517899
NM_133433.4(NIPBL):c.6108T>C (p.Ser2036=)
NM_133433.4(NIPBL):c.6110C>T (p.Thr2037Met)
NM_133433.4(NIPBL):c.6140T>C (p.Val2047Ala)
NM_133433.4(NIPBL):c.6177G>T (p.Glu2059Asp)
NM_133433.4(NIPBL):c.6262T>G (p.Cys2088Gly)
NM_133433.4(NIPBL):c.6333T>C (p.Asn2111=)
NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp) rs1579561078
NM_133433.4(NIPBL):c.6498+4_6498+9del rs1167724948
NM_133433.4(NIPBL):c.64C>T (p.Leu22Phe)
NM_133433.4(NIPBL):c.6617T>C (p.Leu2206Pro)
NM_133433.4(NIPBL):c.6625G>A (p.Glu2209Lys)
NM_133433.4(NIPBL):c.6669G>T (p.Lys2223Asn)
NM_133433.4(NIPBL):c.671C>A (p.Ser224Tyr)
NM_133433.4(NIPBL):c.6954+6C>T
NM_133433.4(NIPBL):c.7038C>A (p.Asp2346Glu)
NM_133433.4(NIPBL):c.7049C>G (p.Ala2350Gly)
NM_133433.4(NIPBL):c.7063-19A>T
NM_133433.4(NIPBL):c.7063-7A>T
NM_133433.4(NIPBL):c.7208G>A (p.Arg2403His) rs2478658915
NM_133433.4(NIPBL):c.7337C>T (p.Pro2446Leu)
NM_133433.4(NIPBL):c.7371C>G (p.Leu2457=) rs752547166
NM_133433.4(NIPBL):c.7472G>A (p.Ser2491Asn)
NM_133433.4(NIPBL):c.7481AAG[2] (p.Glu2496del) rs765215110
NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val)
NM_133433.4(NIPBL):c.7489G>A (p.Val2497Ile)
NM_133433.4(NIPBL):c.7524TTCAGA[5] (p.Ser2515_Glu2516insAspSer)
NM_133433.4(NIPBL):c.753G>T (p.Val251=)
NM_133433.4(NIPBL):c.7543_7548del (p.Ser2515_Glu2516del)
NM_133433.4(NIPBL):c.755A>G (p.His252Arg)
NM_133433.4(NIPBL):c.7639C>T (p.Leu2547Phe)
NM_133433.4(NIPBL):c.7738A>G (p.Ile2580Val)
NM_133433.4(NIPBL):c.7768C>G (p.Pro2590Ala)
NM_133433.4(NIPBL):c.7828G>A (p.Val2610Met)
NM_133433.4(NIPBL):c.802G>A (p.Ala268Thr)
NM_133433.4(NIPBL):c.8073T>A (p.Asn2691Lys)
NM_133433.4(NIPBL):c.8101A>G (p.Met2701Val) rs2478768967
NM_133433.4(NIPBL):c.8125G>T (p.Asp2709Tyr)
NM_133433.4(NIPBL):c.8299A>C (p.Lys2767Gln)
NM_133433.4(NIPBL):c.835T>C (p.Cys279Arg)
NM_133433.4(NIPBL):c.851G>A (p.Ser284Asn)
NM_133433.4(NIPBL):c.865A>G (p.Lys289Glu)
NM_133433.4(NIPBL):c.868+4C>T rs751127087
NM_133433.4(NIPBL):c.872C>T (p.Ser291Leu)
NM_133433.4(NIPBL):c.89C>G (p.Ser30Cys)
NM_133433.4(NIPBL):c.9G>T (p.Gly3=)

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