ClinVar Miner

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

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NC_000005.10:g.(?_37045443)_(37048675_?)del
NC_000005.9:g.(?_37045525)_(37048797_?)del
NC_000005.9:g.(?_37057268)_(37061140_?)del
NM_133433.4(NIPBL):c.3575-2A>G
NM_133433.4(NIPBL):c.3664+1G>A
NM_133433.4(NIPBL):c.4560+1G>C rs2149681631
NM_133433.4(NIPBL):c.4746ACT[3] (p.Leu1585dup) rs1748964402
NM_133433.4(NIPBL):c.5011-1G>C rs1561169166
NM_133433.4(NIPBL):c.5225+2T>G
NM_133433.4(NIPBL):c.5374G>C (p.Ala1792Pro) rs1554025675
NM_133433.4(NIPBL):c.5464G>A (p.Asp1822Asn)
NM_133433.4(NIPBL):c.5466T>G (p.Asp1822Glu)
NM_133433.4(NIPBL):c.5575-1G>A rs1750049152
NM_133433.4(NIPBL):c.6038G>A (p.Ser2013Asn) rs1554030233
NM_133433.4(NIPBL):c.6249+1G>A rs2149730953
NM_133433.4(NIPBL):c.6455G>C (p.Arg2152Pro) rs781297222
NM_133433.4(NIPBL):c.6860T>C (p.Leu2287Pro)
NM_133433.4(NIPBL):c.7079G>A (p.Gly2360Asp) rs2149742261
NM_133433.4(NIPBL):c.7169C>T (p.Ala2390Val)
NM_133433.4(NIPBL):c.7263+1G>A
NM_133433.4(NIPBL):c.7410+4A>G rs1561222738
NM_133433.4(NIPBL):c.7623G>A (p.Gln2541=) rs1754396332
NM_133433.4(NIPBL):c.7832A>G (p.Lys2611Arg) rs1554035311

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