ClinVar Miner

List of variants in gene NIPBL reported as uncertain significance for Cornelia de Lange Syndrome

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Total variants: 27
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HGVS dbSNP
NM_133433.4(NIPBL):c.-153dup rs567891305
NM_133433.4(NIPBL):c.-265A>G rs879291582
NM_133433.4(NIPBL):c.-338C>T rs886060556
NM_133433.4(NIPBL):c.-379G>A rs886060555
NM_133433.4(NIPBL):c.-410C>T rs886060554
NM_133433.4(NIPBL):c.-416dup rs886060553
NM_133433.4(NIPBL):c.-424T>C rs886060552
NM_133433.4(NIPBL):c.-428G>C rs886060551
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703
NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile) rs746183321
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg) rs150837768
NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser) rs144289137
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) rs199546324
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr) rs201482152
NM_133433.4(NIPBL):c.2501G>A (p.Arg834Gln) rs757394370
NM_133433.4(NIPBL):c.2856G>A (p.Ala952=) rs371566938
NM_133433.4(NIPBL):c.2926A>G (p.Met976Val) rs749926228
NM_133433.4(NIPBL):c.3487C>T (p.Pro1163Ser) rs761353689
NM_133433.4(NIPBL):c.4041A>G (p.Thr1347=) rs373206831
NM_133433.4(NIPBL):c.4321-15A>G rs587783946
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=) rs749296628
NM_133433.4(NIPBL):c.4699C>A (p.Gln1567Lys) rs780708835
NM_133433.4(NIPBL):c.5168G>A (p.Arg1723Gln) rs886060558
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=) rs777430704
NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=) rs149186951
NM_133433.4(NIPBL):c.7362C>T (p.Asp2454=) rs886060559
NM_133433.4(NIPBL):c.7843G>C (p.Val2615Leu) rs886060560

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