ClinVar Miner

List of variants in gene NIPBL reported as pathogenic by OMIM

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Total variants: 13
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HGVS dbSNP
NIPBL, IVS44DS, A-G, +4
NM_133433.4(NIPBL):c.-321_-320delinsA rs724159980
NM_133433.4(NIPBL):c.150del (p.Asn51fs) rs1554011042
NM_133433.4(NIPBL):c.1547dup (p.Ala517fs) rs1554016981
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys) rs121918264
NM_133433.4(NIPBL):c.3616_3618del (p.Ile1206del) rs121918266
NM_133433.4(NIPBL):c.3737C>G (p.Ala1246Gly) rs121918268
NM_133433.4(NIPBL):c.4606C>T (p.Arg1536Ter) rs121918269
NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter) rs121918267
NM_133433.4(NIPBL):c.7289A>G (p.Tyr2430Cys) rs121918265
NM_133433.4(NIPBL):c.7306dup (p.Ala2436fs) rs1561222491
NM_133433.4(NIPBL):c.7861-1G>C rs1561231553

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