ClinVar Miner

List of variants in gene NIPBL reported as likely pathogenic by Invitae

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Total variants: 7
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NM_133433.4(NIPBL):c.5011-1G>C rs1561169166
NM_133433.4(NIPBL):c.5374G>C (p.Ala1792Pro) rs1554025675
NM_133433.4(NIPBL):c.6038G>A (p.Ser2013Asn) rs1554030233
NM_133433.4(NIPBL):c.7410+4A>G rs1561222738
NM_133433.4(NIPBL):c.7832A>G (p.Lys2611Arg) rs1554035311
Single allele

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