ClinVar Miner

List of variants in gene NIPBL reported as uncertain significance for not specified

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Total variants: 11
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HGVS dbSNP
NM_133433.4(NIPBL):c.1352C>T (p.Ser451Phe) rs1554015273
NM_133433.4(NIPBL):c.1979A>G (p.Glu660Gly) rs867081982
NM_133433.4(NIPBL):c.2105C>T (p.Thr702Ile) rs372162252
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) rs149629686
NM_133433.4(NIPBL):c.3583G>A (p.Asp1195Asn) rs149134659
NM_133433.4(NIPBL):c.4776+4A>G rs797045765
NM_133433.4(NIPBL):c.5295G>A (p.Pro1765=) rs758853244
NM_133433.4(NIPBL):c.6087A>G (p.Pro2029=) rs1486059319
NM_133433.4(NIPBL):c.6263G>A (p.Cys2088Tyr) rs797045777
NM_133433.4(NIPBL):c.7263+4A>C rs797045781
NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val) rs1554034831

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