ClinVar Miner

List of variants in gene NIPBL reported by Ambry Genetics

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Gene type:
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Total variants: 47
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HGVS dbSNP
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) rs200440893
NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter) rs1554015303
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser) rs142703446
NM_133433.4(NIPBL):c.1891G>T (p.Val631Leu)
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471
NM_133433.4(NIPBL):c.2120G>T (p.Gly707Val)
NM_133433.4(NIPBL):c.2261G>T (p.Arg754Leu) rs748268539
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.4(NIPBL):c.2349A>G (p.Lys783=)
NM_133433.4(NIPBL):c.2375G>T (p.Arg792Leu)
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) rs293756
NM_133433.4(NIPBL):c.2471C>T (p.Ser824Leu) rs587783904
NM_133433.4(NIPBL):c.2511G>C (p.Gln837His)
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=) rs376637245
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val) rs200991784
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445
NM_133433.4(NIPBL):c.310C>G (p.Pro104Ala)
NM_133433.4(NIPBL):c.3204T>C (p.Arg1068=)
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) rs35748854
NM_133433.4(NIPBL):c.3630G>A (p.Leu1210=)
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449
NM_133433.4(NIPBL):c.4305T>C (p.Ile1435=)
NM_133433.4(NIPBL):c.435C>T (p.Thr145=) rs1561082537
NM_133433.4(NIPBL):c.4773G>C (p.Leu1591=)
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=) rs145952190
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=) rs148542094
NM_133433.4(NIPBL):c.5709+4G>A rs370325589
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200
NM_133433.4(NIPBL):c.6069T>C (p.His2023=) rs1561196903
NM_133433.4(NIPBL):c.6109-3T>C rs145778995
NM_133433.4(NIPBL):c.6143C>G (p.Ala2048Gly) rs1554031795
NM_133433.4(NIPBL):c.65-5A>C
NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly) rs587784018
NM_133433.4(NIPBL):c.6624C>T (p.Phe2208=)
NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=) rs149186951
NM_133433.4(NIPBL):c.7097A>G (p.Gln2366Arg)
NM_133433.4(NIPBL):c.7245C>T (p.Asn2415=) rs1561216202
NM_133433.4(NIPBL):c.7590A>G (p.Ser2530=) rs1286310849
NM_133433.4(NIPBL):c.7641C>T (p.Leu2547=) rs587784046
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) rs16903425
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015
NM_133433.4(NIPBL):c.804A>G (p.Ala268=)
NM_133433.4(NIPBL):c.915A>G (p.Ser305=)
NM_133433.4(NIPBL):c.961A>C (p.Arg321=)

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