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: 15
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HGVS dbSNP
NM_133433.3(NIPBL):c.1521A>C (p.Gln507His) rs1085307910
NM_133433.3(NIPBL):c.3410_3413delGAAG (p.Gly1137Glufs) rs1057518050
NM_133433.3(NIPBL):c.4253G>A (p.Gly1418Glu) rs1554022000
NM_133433.3(NIPBL):c.4493T>C (p.Ile1498Thr) rs199570957
NM_133433.3(NIPBL):c.4561-2A>G rs1057524427
NM_133433.3(NIPBL):c.5710-13_5710-12delCTinsAA rs1064794606
NM_133433.3(NIPBL):c.6070G>C (p.Ala2024Pro) rs1064794672
NM_133433.3(NIPBL):c.6108+5G>A rs1057518091
NM_133433.3(NIPBL):c.6845A>G (p.Tyr2282Cys) rs1057524102
NM_133433.3(NIPBL):c.6962C>T (p.Pro2321Leu) rs1064796744
NM_133433.3(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036
NM_133433.3(NIPBL):c.7175G>A (p.Cys2392Tyr) rs886042231
NM_133433.3(NIPBL):c.7301A>G (p.Asn2434Ser) rs80358384
NM_133433.3(NIPBL):c.771+2T>A rs1131691967
NM_133433.3(NIPBL):c.775G>A (p.Gly259Arg) rs1064794954

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