ClinVar Miner

List of variants reported as likely pathogenic for Cornelia de Lange syndrome 3

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.707G>A (p.Arg236His) rs587784429 0.00001
NM_005445.4(SMC3):c.1127A>C (p.Tyr376Ser) rs2493117603
NM_005445.4(SMC3):c.1343dup (p.Glu449fs) rs2134735614
NM_005445.4(SMC3):c.1417T>C (p.Trp473Arg) rs1861180567
NM_005445.4(SMC3):c.1417T>G (p.Trp473Gly) rs1861180567
NM_005445.4(SMC3):c.1450GCT[1] (p.Ala485del) rs1564792181
NM_005445.4(SMC3):c.1480del (p.Gln494fs) rs2493126411
NM_005445.4(SMC3):c.1505G>A (p.Gly502Glu) rs2493126445
NM_005445.4(SMC3):c.181C>T (p.Arg61Trp) rs866273473
NM_005445.4(SMC3):c.1901G>A (p.Arg634His) rs2134740210
NM_005445.4(SMC3):c.1925T>C (p.Leu642Pro) rs1590563617
NM_005445.4(SMC3):c.1942A>G (p.Met648Val) rs886041239
NM_005445.4(SMC3):c.1964G>A (p.Gly655Asp) rs587784425
NM_005445.4(SMC3):c.2005T>G (p.Tyr669Asp) rs776056911
NM_005445.4(SMC3):c.2101C>T (p.Arg701Cys)
NM_005445.4(SMC3):c.2111T>C (p.Ile704Thr) rs1564794233
NM_005445.4(SMC3):c.2338G>C (p.Glu780Gln) rs587784427
NM_005445.4(SMC3):c.2347A>C (p.Thr783Pro) rs2493143956
NM_005445.4(SMC3):c.2399T>C (p.Leu800Pro) rs2493144025
NM_005445.4(SMC3):c.2495T>C (p.Leu832Pro) rs1861369323
NM_005445.4(SMC3):c.2513A>C (p.Lys838Thr) rs2134750930
NM_005445.4(SMC3):c.2590T>C (p.Ser864Pro) rs2493146503
NM_005445.4(SMC3):c.2636G>C (p.Arg879Pro) rs797045996
NM_005445.4(SMC3):c.283G>A (p.Glu95Lys) rs869312672
NM_005445.4(SMC3):c.2952_2954del (p.Lys985del) rs1590571077
NM_005445.4(SMC3):c.3007C>T (p.Arg1003Cys) rs1861395935
NM_005445.4(SMC3):c.3362C>T (p.Ser1121Phe) rs1564796294
NM_005445.4(SMC3):c.3373C>G (p.Leu1125Val) rs901512521
NM_005445.4(SMC3):c.3442G>T (p.Ala1148Ser) rs2134754195
NM_005445.4(SMC3):c.3625_3630dup (p.Val1210_Glu1211insPheVal) rs2493152435
NM_005445.4(SMC3):c.430-1G>T
NM_005445.4(SMC3):c.435C>A (p.Asn145Lys) rs2493111001
NM_005445.4(SMC3):c.463A>G (p.Arg155Gly) rs2493111036
NM_005445.4(SMC3):c.587T>C (p.Ile196Thr) rs797045070
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro) rs587784429
NM_005445.4(SMC3):c.856GAA[3] (p.Glu287dup) rs797045997
NM_005445.4(SMC3):c.932A>G (p.Asp311Gly) rs1590556378

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