ClinVar Miner

List of variants studied for Cornelia de Lange syndrome 3 by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=) rs75817442 0.00370
NM_005445.4(SMC3):c.255A>G (p.Ser85=) rs146433240 0.00287
NM_005445.4(SMC3):c.2934G>A (p.Lys978=) rs147463420 0.00133
NM_005445.4(SMC3):c.2329T>C (p.Leu777=) rs76625999 0.00132
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg) rs142524280 0.00054
NM_005445.4(SMC3):c.2535+15T>G rs3818903 0.00040
NM_005445.4(SMC3):c.1581T>C (p.His527=) rs182445355 0.00013
NM_005445.4(SMC3):c.2493T>C (p.Tyr831=) rs112525060 0.00008
NM_005445.4(SMC3):c.2268+4C>T rs587784426 0.00004
NM_005445.4(SMC3):c.507C>T (p.Asp169=) rs370909218 0.00003
NM_005445.4(SMC3):c.2299T>C (p.Leu767=) rs139763232 0.00001
NM_005445.4(SMC3):c.2427+13C>T rs190798929 0.00001
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.2264C>T (p.Pro755Leu) rs76568464
NM_005445.4(SMC3):c.2338G>C (p.Glu780Gln) rs587784427
NM_005445.4(SMC3):c.2636G>C (p.Arg879Pro) rs797045996
NM_005445.4(SMC3):c.2710T>C (p.Trp904Arg) rs112281749
NM_005445.4(SMC3):c.2964T>C (p.Asp988=) rs111611128
NM_005445.4(SMC3):c.3373C>G (p.Leu1125Val) rs901512521
NM_005445.4(SMC3):c.377A>G (p.Glu126Gly) rs113411202
NM_005445.4(SMC3):c.707G>C (p.Arg236Pro) rs587784429
NM_005445.4(SMC3):c.856GAA[3] (p.Glu287dup) rs797045997

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