ClinVar Miner

List of variants reported as likely pathogenic for Cornelia de Lange syndrome 1

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ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr) rs147054690 0.00015
NC_000005.10:g.(?_37045443)_(37048675_?)del
NC_000005.9:g.(?_37045525)_(37048797_?)del
NC_000005.9:g.(?_37057268)_(37061140_?)del
NM_005445.4(SMC3):c.1419G>C (p.Trp473Cys) rs1861180589
NM_006306.4(SMC1A):c.622C>G (p.Arg208Gly) rs1057520375
NM_133433.4(NIPBL):c.-467C>T rs1251456909
NM_133433.4(NIPBL):c.1435C>G (p.Arg479Gly) rs1554015303
NM_133433.4(NIPBL):c.1477A>G (p.Lys493Glu) rs587783887
NM_133433.4(NIPBL):c.1496-8A>G rs797045747
NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter) rs1580394197
NM_133433.4(NIPBL):c.1708_1709del (p.Ile570fs)
NM_133433.4(NIPBL):c.1808del (p.Lys603fs) rs727503767
NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer) rs1057518944
NM_133433.4(NIPBL):c.201_212del (p.His67_Asn70del) rs587783893
NM_133433.4(NIPBL):c.206T>C (p.Leu69Pro) rs587783895
NM_133433.4(NIPBL):c.2078C>G (p.Ser693Ter)
NM_133433.4(NIPBL):c.272_280del (p.Asp91_Pro93del)
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys) rs121918264
NM_133433.4(NIPBL):c.3122-2A>G rs587783918
NM_133433.4(NIPBL):c.3137C>A (p.Ser1046Ter) rs1554019663
NM_133433.4(NIPBL):c.328A>T (p.Lys110Ter)
NM_133433.4(NIPBL):c.3304+5G>A rs80358356
NM_133433.4(NIPBL):c.3425dup (p.Gly1143fs) rs1554020579
NM_133433.4(NIPBL):c.3440G>A (p.Arg1147Gln) rs587783921
NM_133433.4(NIPBL):c.345A>G (p.Arg115=) rs587783922
NM_133433.4(NIPBL):c.3575-2A>G
NM_133433.4(NIPBL):c.358+5G>C rs587783928
NM_133433.4(NIPBL):c.3664+1G>A
NM_133433.4(NIPBL):c.3804_3818del (p.Leu1269_Ile1273del) rs587783931
NM_133433.4(NIPBL):c.3818T>G (p.Ile1273Ser) rs587783932
NM_133433.4(NIPBL):c.3855+5G>A rs80358378
NM_133433.4(NIPBL):c.3856-7_3856-5del rs797045757
NM_133433.4(NIPBL):c.3932G>A (p.Cys1311Tyr) rs2149676839
NM_133433.4(NIPBL):c.3937A>C (p.Thr1313Pro)
NM_133433.4(NIPBL):c.4173_4174del (p.Cys1391_Asp1392delinsTer) rs1747566758
NM_133433.4(NIPBL):c.4269dup (p.Val1424fs)
NM_133433.4(NIPBL):c.4320+2dup rs797045758
NM_133433.4(NIPBL):c.4421G>C (p.Arg1474Thr) rs587783947
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.4(NIPBL):c.4560+1G>C rs2149681631
NM_133433.4(NIPBL):c.4560+4A>G
NM_133433.4(NIPBL):c.4570delinsTA (p.Asp1524Ter)
NM_133433.4(NIPBL):c.4746ACT[3] (p.Leu1585dup) rs1748964402
NM_133433.4(NIPBL):c.4829T>C (p.Leu1610Pro) rs1561164598
NM_133433.4(NIPBL):c.5011-1G>C rs1561169166
NM_133433.4(NIPBL):c.5225+2T>G
NM_133433.4(NIPBL):c.5327A>T (p.Gln1776Leu) rs587783966
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.5374G>C (p.Ala1792Pro) rs1554025675
NM_133433.4(NIPBL):c.5456G>A (p.Arg1819Gln) rs80358366
NM_133433.4(NIPBL):c.5464G>A (p.Asp1822Asn)
NM_133433.4(NIPBL):c.5465A>G (p.Asp1822Gly) rs587783977
NM_133433.4(NIPBL):c.5466T>G (p.Asp1822Glu)
NM_133433.4(NIPBL):c.5467A>G (p.Asn1823Asp) rs750864821
NM_133433.4(NIPBL):c.551dup (p.Gly185fs)
NM_133433.4(NIPBL):c.5566A>G (p.Arg1856Gly) rs80358373
NM_133433.4(NIPBL):c.5575-1G>A rs1750049152
NM_133433.4(NIPBL):c.5684G>C (p.Arg1895Thr)
NM_133433.4(NIPBL):c.5709+1G>A rs587783979
NM_133433.4(NIPBL):c.5732A>C (p.Gln1911Pro) rs587783982
NM_133433.4(NIPBL):c.5808+5G>A rs2149704635
NM_133433.4(NIPBL):c.5862+1G>A rs587783985
NM_133433.4(NIPBL):c.5862+3487C>T rs2149710327
NM_133433.4(NIPBL):c.5921TTG[1] (p.Val1975del) rs587783987
NM_133433.4(NIPBL):c.5923G>T (p.Val1975Phe) rs587783986
NM_133433.4(NIPBL):c.5936T>G (p.Val1979Gly) rs2149718188
NM_133433.4(NIPBL):c.5982del (p.Asn1994fs) rs2149721379
NM_133433.4(NIPBL):c.6038G>A (p.Ser2013Asn) rs1554030233
NM_133433.4(NIPBL):c.6068A>G (p.His2023Arg) rs587783991
NM_133433.4(NIPBL):c.6158T>C (p.Leu2053Pro) rs587783997
NM_133433.4(NIPBL):c.6166C>A (p.Pro2056Thr) rs2149730828
NM_133433.4(NIPBL):c.6170T>C (p.Leu2057Pro) rs587783998
NM_133433.4(NIPBL):c.6242G>T (p.Gly2081Val) rs587784000
NM_133433.4(NIPBL):c.6249+1G>A rs2149730953
NM_133433.4(NIPBL):c.6250G>T (p.Val2084Leu) rs587784002
NM_133433.4(NIPBL):c.6266T>G (p.Val2089Gly) rs587784003
NM_133433.4(NIPBL):c.6275T>G (p.Leu2092Arg) rs1579557913
NM_133433.4(NIPBL):c.6316G>C (p.Val2106Leu) rs587784004
NM_133433.4(NIPBL):c.6343G>A (p.Gly2115Ser) rs587784007
NM_133433.4(NIPBL):c.6344-1G>A
NM_133433.4(NIPBL):c.6362_6364del (p.Lys2121del) rs587784008
NM_133433.4(NIPBL):c.64+5G>A rs587784011
NM_133433.4(NIPBL):c.6440T>G (p.Val2147Gly)
NM_133433.4(NIPBL):c.6455G>C (p.Arg2152Pro) rs781297222
NM_133433.4(NIPBL):c.65-5A>G rs587784012
NM_133433.4(NIPBL):c.6527T>C (p.Leu2176Pro) rs1561207924
NM_133433.4(NIPBL):c.654_657del (p.Ile218fs) rs2149619973
NM_133433.4(NIPBL):c.6629AAG[1] (p.Glu2211del) rs587784019
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.4(NIPBL):c.6647ATA[2] (p.Asn2218del) rs587784022
NM_133433.4(NIPBL):c.6706A>G (p.Asn2236Asp)
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.6726AGA[2] (p.Glu2244del) rs2149737108
NM_133433.4(NIPBL):c.6763+1_6763+2del
NM_133433.4(NIPBL):c.6763+5G>A rs2149737162
NM_133433.4(NIPBL):c.6800T>G (p.Met2267Arg) rs797045779
NM_133433.4(NIPBL):c.6860T>C (p.Leu2287Pro)
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_133433.4(NIPBL):c.6935G>T (p.Gly2312Val) rs587784025
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.4(NIPBL):c.7079G>A (p.Gly2360Asp) rs2149742261
NM_133433.4(NIPBL):c.7141G>A (p.Gly2381Ser) rs587784035
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133433.4(NIPBL):c.7169C>T (p.Ala2390Val)
NM_133433.4(NIPBL):c.7175G>A (p.Cys2392Tyr) rs886042231
NM_133433.4(NIPBL):c.7263+1G>A
NM_133433.4(NIPBL):c.7288T>C (p.Tyr2430His) rs1754192867
NM_133433.4(NIPBL):c.7301A>G (p.Asn2434Ser) rs80358384
NM_133433.4(NIPBL):c.7306G>A (p.Ala2436Thr) rs587784039
NM_133433.4(NIPBL):c.7336_7338del (p.Pro2446del) rs587784040
NM_133433.4(NIPBL):c.7410+4A>G rs1561222738
NM_133433.4(NIPBL):c.7623G>A (p.Gln2541=) rs1754396332
NM_133433.4(NIPBL):c.7637T>C (p.Leu2546Pro) rs727503772
NM_133433.4(NIPBL):c.7658T>G (p.Leu2553Trp) rs2149752967
NM_133433.4(NIPBL):c.7825G>T (p.Glu2609Ter) rs2149755613
NM_133433.4(NIPBL):c.7832A>G (p.Lys2611Arg) rs1554035311
NM_133433.4(NIPBL):c.7936_7961del (p.Arg2646fs)
NM_133433.4(NIPBL):c.8173G>C (p.Ala2725Pro) rs587784053
NM_133433.4(NIPBL):c.8296_8300delinsTT (p.Ile2766_Lys2767delinsLeu) rs797045788
NM_133433.4(NIPBL):c.8384T>C (p.Leu2795Pro) rs2149761303
NM_133433.4(NIPBL):c.8390_8396del (p.Ala2797fs) rs2149761324
NM_133433.4(NIPBL):c.868G>A (p.Gly290Ser) rs1554014382
NM_133433.4(NIPBL):c.869-1G>C
NM_133433.4(NIPBL):c.869-640G>C rs2149626924
NM_133433.4:c.1480_2479del

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