ClinVar Miner

List of variants in gene NIPBL reported as uncertain significance by New York Genome Center

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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_133433.4(NIPBL):c.1847G>A (p.Ser616Asn) rs371073215 0.00004
NM_133433.4(NIPBL):c.-79-11559C>T rs1436464402 0.00001
NM_133433.4(NIPBL):c.1229T>C (p.Ile410Thr) rs546539357
NM_133433.4(NIPBL):c.2246A>C (p.Gln749Pro) rs1178033980
NM_133433.4(NIPBL):c.479C>T (p.Thr160Ile) rs763783306
NM_133433.4(NIPBL):c.5115T>C (p.His1705=) rs2149696602
NM_133433.4(NIPBL):c.6577A>G (p.Ile2193Val) rs1368217611

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