ClinVar Miner

List of variants studied for Cornelia de Lange syndrome by OMIM

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NIPBL, IVS44DS, A-G, +4
NM_005445.3(SMC3):c.139T>C (p.Phe47Leu) rs863225258
NM_005445.3(SMC3):c.1461_1463AGA[1] (p.Glu488del) rs863223279
NM_005445.3(SMC3):c.1462G>A (p.Glu488Lys) rs863225260
NM_005445.3(SMC3):c.1964G>A (p.Gly655Asp) rs587784425
NM_005445.3(SMC3):c.1997G>C (p.Gly666Ala) rs863225261
NM_005445.3(SMC3):c.2750A>C (p.His917Pro) rs797044861
NM_005445.3(SMC3):c.703_705del (p.Thr235del) rs863225259
NM_005445.3(SMC3):c.707G>C (p.Arg236Pro) rs587784429
NM_006265.2(RAD21):c.1127C>G (p.Pro376Arg) rs387907212
NM_006265.2(RAD21):c.1753T>C (p.Cys585Arg) rs387907213
NM_006306.3(SMC1A):c.1478A>C (p.Glu493Ala) rs122454122
NM_006306.3(SMC1A):c.1487G>A (p.Arg496His) rs122454123
NM_006306.3(SMC1A):c.2351T>C (p.Ile784Thr) rs387906702
NM_018486.3(HDAC8):c.1001A>G (p.His334Arg) rs397515418
NM_018486.3(HDAC8):c.164+5G>A rs398122888
NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter) rs397515415
NM_018486.3(HDAC8):c.539A>G (p.His180Arg) rs397515416
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met) rs397515417
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg) rs398122909
NM_133433.4(NIPBL):c.-321_-320delinsA rs724159980
NM_133433.4(NIPBL):c.150del (p.Asn51fs) rs1554011042
NM_133433.4(NIPBL):c.1547dup (p.Ala517fs) rs1554016981
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.2T>A (p.Met1Lys) rs121918264
NM_133433.4(NIPBL):c.3616_3618del (p.Ile1206del) rs121918266
NM_133433.4(NIPBL):c.3737C>G (p.Ala1246Gly) rs121918268
NM_133433.4(NIPBL):c.4606C>T (p.Arg1536Ter) rs121918269
NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter) rs121918267
NM_133433.4(NIPBL):c.7289A>G (p.Tyr2430Cys) rs121918265
NM_133433.4(NIPBL):c.7306dup (p.Ala2436fs) rs1561222491
NM_133433.4(NIPBL):c.7861-1G>C rs1561231553
SMC1A, 15-BP DEL, NT173
SMC1A, 3-BP DEL, 2493CCA
SMC1A, 8.152-KB DEL

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