ClinVar Miner

List of variants in gene NIPBL reported by Athena Diagnostics Inc

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Total variants: 9
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HGVS dbSNP
NM_133433.3(NIPBL):c.1352C>T (p.Ser451Phe) rs1554015273
NM_133433.3(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350
NM_133433.3(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471
NM_133433.3(NIPBL):c.3126T>C (p.Ser1042=) rs757245118
NM_133433.3(NIPBL):c.3467T>C (p.Met1156Thr)
NM_133433.3(NIPBL):c.3583G>A (p.Asp1195Asn) rs149134659
NM_133433.3(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.3(NIPBL):c.7830G>C (p.Val2610=) rs115668015
NM_133433.3(NIPBL):c.7867C>G (p.Leu2623Val)

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