ClinVar Miner

List of variants in gene NIPBL reported as uncertain significance by GeneDx

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Total variants: 9
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HGVS dbSNP
NM_133433.4(NIPBL):c.1273C>G (p.Gln425Glu) rs1554015229
NM_133433.4(NIPBL):c.1979A>G (p.Glu660Gly) rs867081982
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro) rs149892167
NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu) rs1554017428
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu) rs587783916
NM_133433.4(NIPBL):c.3139G>T (p.Val1047Leu) rs1057522878
NM_133433.4(NIPBL):c.3855+4A>C rs1554021100
NM_133433.4(NIPBL):c.5843T>A (p.Phe1948Tyr) rs1085307579
NM_133433.4(NIPBL):c.6243C>T (p.Gly2081=) rs1131691272

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