ClinVar Miner

List of variants in gene NIPBL reported as likely pathogenic

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Total variants: 71
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HGVS dbSNP
NM_133433.4(NIPBL):c.1477A>G (p.Lys493Glu) rs587783887
NM_133433.4(NIPBL):c.1496-8A>G rs797045747
NM_133433.4(NIPBL):c.1521A>C (p.Gln507His) rs1085307910
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.3122-2A>G rs587783918
NM_133433.4(NIPBL):c.3137C>A (p.Ser1046Ter) rs1554019663
NM_133433.4(NIPBL):c.3304+5G>A rs80358356
NM_133433.4(NIPBL):c.3406_3409GAAG[1] (p.Gly1137fs) rs1057518050
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.358+5G>C rs587783928
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+1G>A
NM_133433.4(NIPBL):c.3855+5G>A rs80358378
NM_133433.4(NIPBL):c.3856-7_3856-5del rs797045757
NM_133433.4(NIPBL):c.4253G>A (p.Gly1418Glu) rs1554022000
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.4493T>C (p.Ile1498Thr) rs199570957
NM_133433.4(NIPBL):c.4561-2A>G rs1057524427
NM_133433.4(NIPBL):c.4829T>C (p.Leu1610Pro) rs1561164598
NM_133433.4(NIPBL):c.5011-1G>C rs1561169166
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.5465A>G (p.Asp1822Gly) rs587783977
NM_133433.4(NIPBL):c.5566A>G (p.Arg1856Gly) rs80358373
NM_133433.4(NIPBL):c.5710-13_5710-12delinsAA rs1064794606
NM_133433.4(NIPBL):c.5732A>C (p.Gln1911Pro) rs587783982
NM_133433.4(NIPBL):c.5921_5923TTG[1] (p.Val1975del) rs587783987
NM_133433.4(NIPBL):c.5923G>T (p.Val1975Phe) rs587783986
NM_133433.4(NIPBL):c.6038G>A (p.Ser2013Asn) rs1554030233
NM_133433.4(NIPBL):c.6070G>C (p.Ala2024Pro) rs1064794672
NM_133433.4(NIPBL):c.6108+5G>A rs1057518091
NM_133433.4(NIPBL):c.6158T>C (p.Leu2053Pro) rs587783997
NM_133433.4(NIPBL):c.6170T>C (p.Leu2057Pro) rs587783998
NM_133433.4(NIPBL):c.6242G>C (p.Gly2081Ala) rs587784000
NM_133433.4(NIPBL):c.6242G>T (p.Gly2081Val) rs587784000
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.6316G>C (p.Val2106Leu) rs587784004
NM_133433.4(NIPBL):c.6343G>A (p.Gly2115Ser) rs587784007
NM_133433.4(NIPBL):c.6362_6364del (p.Lys2121del) rs587784008
NM_133433.4(NIPBL):c.64+5G>A rs587784011
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr) rs147054690
NM_133433.4(NIPBL):c.65-5A>G rs587784012
NM_133433.4(NIPBL):c.6527T>C (p.Leu2176Pro) rs1561207924
NM_133433.4(NIPBL):c.6629_6631AAG[1] (p.Glu2211del) rs587784019
NM_133433.4(NIPBL):c.6800T>G (p.Met2267Arg) rs797045779
NM_133433.4(NIPBL):c.6845A>G (p.Tyr2282Cys) rs1057524102
NM_133433.4(NIPBL):c.6935G>T (p.Gly2312Val) rs587784025
NM_133433.4(NIPBL):c.6962C>T (p.Pro2321Leu) rs1064796744
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
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.7175G>A (p.Cys2392Tyr) rs886042231
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.771+2T>A rs1131691967
NM_133433.4(NIPBL):c.775G>A (p.Gly259Arg) rs1064794954
NM_133433.4(NIPBL):c.7832A>G (p.Lys2611Arg) rs1554035311
NM_133433.4(NIPBL):c.868G>A (p.Gly290Ser) rs1554014382
Single allele

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