ClinVar Miner

Variants in gene NIPBL with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.-467C>T rs1251456909
NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter) rs1580394197
NM_133433.4(NIPBL):c.1808del (p.Lys603fs) rs727503767
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys) rs121918264
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.5709+1G>A rs587783979
NM_133433.4(NIPBL):c.5808+5G>A rs2149704635
NM_133433.4(NIPBL):c.65-5A>G rs587784012
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.4(NIPBL):c.6647ATA[2] (p.Asn2218del) rs587784022
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) rs587784024
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036

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