ClinVar Miner

List of variants in gene NIPBL reported as likely pathogenic for not provided

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 5p13.2(chr5:36874777-36958323)x1
NM_133433.4(NIPBL):c.1808dup (p.Ser604fs) rs727503767
NM_133433.4(NIPBL):c.3305-1G>A rs80358375
NM_133433.4(NIPBL):c.3402_3403del (p.Ser1134_His1135insTer) rs2149669107
NM_133433.4(NIPBL):c.3410_3413del (p.Gly1137fs) rs1057518050
NM_133433.4(NIPBL):c.3520A>G (p.Lys1174Glu)
NM_133433.4(NIPBL):c.3856-3C>T
NM_133433.4(NIPBL):c.4253G>A (p.Gly1418Glu) rs1554022000
NM_133433.4(NIPBL):c.4561-2A>G rs1057524427
NM_133433.4(NIPBL):c.4810_4817dup (p.Arg1606_Val1607insLeuTer) rs2149692104
NM_133433.4(NIPBL):c.5456G>A (p.Arg1819Gln) rs80358366
NM_133433.4(NIPBL):c.5575-1G>A rs1750049152
NM_133433.4(NIPBL):c.5710-13_5710-12delinsAA rs1064794606
NM_133433.4(NIPBL):c.6070G>C (p.Ala2024Pro) rs1064794672
NM_133433.4(NIPBL):c.6108+5G>A rs1057518091
NM_133433.4(NIPBL):c.64+5G>A rs587784011
NM_133433.4(NIPBL):c.6726AGA[2] (p.Glu2244del) rs2149737108
NM_133433.4(NIPBL):c.6760_6761del (p.Asp2254fs) rs2149737142
NM_133433.4(NIPBL):c.6845A>G (p.Tyr2282Cys) rs1057524102
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_133433.4(NIPBL):c.6962C>T (p.Pro2321Leu) rs1064796744
NM_133433.4(NIPBL):c.7175G>A (p.Cys2392Tyr) rs886042231
NM_133433.4(NIPBL):c.7198C>T (p.Arg2400Cys)
NM_133433.4(NIPBL):c.7208G>A (p.Arg2403His)
NM_133433.4(NIPBL):c.7301A>G (p.Asn2434Ser) rs80358384
NM_133433.4(NIPBL):c.771+2T>A rs1131691967
NM_133433.4(NIPBL):c.775G>A (p.Gly259Arg) rs1064794954
NM_133433.4(NIPBL):c.8243G>A (p.Trp2748Ter)
NM_133433.4(NIPBL):c.8384dup (p.Tyr2796fs) rs1554036216

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