ClinVar Miner

List of variants reported as benign for Cornelia de Lange syndrome 3 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_005445.4(SMC3):c.3039A>G (p.Ser1013=) rs2419565 0.98861
NM_005445.4(SMC3):c.970-8G>A rs11195199 0.11151
NM_005445.4(SMC3):c.1092-18T>C rs11195200 0.11131
NM_005445.4(SMC3):c.351-9T>C rs78663177 0.06159
NM_005445.4(SMC3):c.1365T>C (p.Tyr455=) rs75323904 0.06157
NM_005445.4(SMC3):c.1092-8T>G rs79912955 0.00975
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=) rs147404470 0.00501
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=) rs75817442 0.00402
NM_005445.4(SMC3):c.2644+6T>A rs201281088 0.00359
NM_005445.4(SMC3):c.92-19A>G rs140102981 0.00310
NM_005445.4(SMC3):c.255A>G (p.Ser85=) rs146433240 0.00287
NM_005445.4(SMC3):c.2934G>A (p.Lys978=) rs147463420 0.00135
NM_005445.4(SMC3):c.2329T>C (p.Leu777=) rs76625999 0.00132
NM_005445.4(SMC3):c.1671-6A>G rs200848781 0.00124
NM_005445.4(SMC3):c.276T>C (p.Asp92=) rs199936534 0.00073
NM_005445.4(SMC3):c.3495T>A (p.Ala1165=) rs142395521 0.00064
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg) rs142524280 0.00057
NM_005445.4(SMC3):c.1581T>C (p.His527=) rs182445355 0.00009
NM_005445.4(SMC3):c.1671-4T>C rs201392611 0.00001
NM_005445.4(SMC3):c.3339A>G (p.Gln1113=) rs189703529 0.00001
NM_005445.4(SMC3):c.1509+16del
NM_005445.4(SMC3):c.1963+16T>C
NM_005445.4(SMC3):c.2645-8del
NM_005445.4(SMC3):c.270+17_270+18del
NM_005445.4(SMC3):c.270+18del
NM_005445.4(SMC3):c.270+18dup rs756099489
NM_005445.4(SMC3):c.2893-17A>G
NM_005445.4(SMC3):c.3298-3dup rs750133429
NM_005445.4(SMC3):c.350+21del
NM_005445.4(SMC3):c.350+21dup
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378
NM_005445.4(SMC3):c.724-6dup rs11380915

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