ClinVar Miner

List of variants in gene NIPBL reported by Athena Diagnostics Inc

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Gene type:
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Total variants: 15
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NM_133433.4(NIPBL):c.1352C>T (p.Ser451Phe) rs1554015273
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471
NM_133433.4(NIPBL):c.2423G>A (p.Arg808Gln) rs142574933
NM_133433.4(NIPBL):c.3126T>C (p.Ser1042=) rs757245118
NM_133433.4(NIPBL):c.3467T>C (p.Met1156Thr) rs914252297
NM_133433.4(NIPBL):c.3583G>A (p.Asp1195Asn) rs149134659
NM_133433.4(NIPBL):c.3861C>T (p.Asn1287=) rs531615496
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449
NM_133433.4(NIPBL):c.6109-3T>C rs145778995
NM_133433.4(NIPBL):c.6674C>T (p.Ser2225Phe) rs750309699
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala) rs185745349
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015
NM_133433.4(NIPBL):c.7867C>G (p.Leu2623Val) rs1030959034

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