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: 21
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471 0.12117
NM_133433.4(NIPBL):c.4421+7A>G rs76297333 0.02109
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00280
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449 0.00229
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00186
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=) rs139108785 0.00047
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
NM_133433.4(NIPBL):c.3861C>T (p.Asn1287=) rs531615496 0.00006
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala) rs185745349 0.00006
NM_133433.4(NIPBL):c.3126T>C (p.Ser1042=) rs757245118 0.00005
NM_133433.4(NIPBL):c.6674C>T (p.Ser2225Phe) rs750309699 0.00004
NM_133433.4(NIPBL):c.2261G>T (p.Arg754Leu) rs748268539 0.00001
NM_133433.4(NIPBL):c.2423G>A (p.Arg808Gln) rs142574933 0.00001
NM_133433.4(NIPBL):c.1352C>T (p.Ser451Phe) rs1554015273
NM_133433.4(NIPBL):c.2841_2843del (p.Gly948del) rs1369177636
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.7867C>G (p.Leu2623Val) rs1030959034

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