ClinVar Miner

List of variants studied for Cornelia de Lange syndrome 3 by Illumina Laboratory Services, Illumina

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Total variants: 59
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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.351-9T>C rs78663177 0.06159
NM_005445.4(SMC3):c.1365T>C (p.Tyr455=) rs75323904 0.06157
NM_005445.4(SMC3):c.*158G>A rs183542538 0.01009
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.*332A>G rs117538515 0.00334
NM_005445.4(SMC3):c.255A>G (p.Ser85=) rs146433240 0.00287
NM_005445.4(SMC3):c.*297T>A rs188322637 0.00157
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.*329C>T rs182524436 0.00123
NM_005445.4(SMC3):c.-74C>A rs376252081 0.00122
NM_005445.4(SMC3):c.276T>C (p.Asp92=) rs199936534 0.00073
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg) rs142524280 0.00057
NM_005445.4(SMC3):c.2535+15T>G rs3818903 0.00040
NM_005445.4(SMC3):c.*304T>G rs755315364 0.00035
NM_005445.4(SMC3):c.*17A>G rs199611616 0.00032
NM_005445.4(SMC3):c.3259G>A (p.Val1087Ile) rs147743879 0.00032
NM_005445.4(SMC3):c.2062G>C (p.Glu688Gln) rs201162818 0.00013
NM_005445.4(SMC3):c.2782C>A (p.Arg928=) rs202034783 0.00011
NM_005445.4(SMC3):c.970-14T>C rs200511874 0.00009
NM_005445.4(SMC3):c.-115T>C rs886046691 0.00006
NM_005445.4(SMC3):c.2268+4C>T rs587784426 0.00004
NM_005445.4(SMC3):c.198+7G>A rs765985488 0.00003
NM_005445.4(SMC3):c.2589A>G (p.Thr863=) rs768482776 0.00003
NM_005445.4(SMC3):c.*327G>C rs1030439322 0.00002
NM_005445.4(SMC3):c.-65T>A rs886046692 0.00002
NM_005445.4(SMC3):c.2656T>G (p.Ser886Ala) rs775665831 0.00002
NM_005445.4(SMC3):c.369C>T (p.Asn123=) rs779773957 0.00002
NM_005445.4(SMC3):c.*228C>T rs1486030712 0.00001
NM_005445.4(SMC3):c.-90G>A rs1333533101 0.00001
NM_005445.4(SMC3):c.1671-4T>C rs201392611 0.00001
NM_005445.4(SMC3):c.1998G>C (p.Gly666=) rs142669130 0.00001
NM_005445.4(SMC3):c.2163C>T (p.Ile721=) rs1193209124 0.00001
NM_005445.4(SMC3):c.2645-8C>T rs886046695 0.00001
NM_005445.4(SMC3):c.3321T>C (p.Gly1107=) rs184870066 0.00001
NM_005445.3(SMC3):c.-136A>G rs994198170
NM_005445.4(SMC3):c.*12T>A rs1861435243
NM_005445.4(SMC3):c.*36A>G rs1861435668
NM_005445.4(SMC3):c.*50C>G rs368890227
NM_005445.4(SMC3):c.*77C>T rs886046696
NM_005445.4(SMC3):c.-92G>T rs558632292
NM_005445.4(SMC3):c.-99C>A rs148267784
NM_005445.4(SMC3):c.1330G>A (p.Val444Ile) rs1861177028
NM_005445.4(SMC3):c.1558C>A (p.Arg520Ser) rs768778247
NM_005445.4(SMC3):c.1890T>A (p.Thr630=) rs79046607
NM_005445.4(SMC3):c.198+3G>A rs533706811
NM_005445.4(SMC3):c.2085G>A (p.Lys695=) rs886046694
NM_005445.4(SMC3):c.2268+13A>G rs755422141
NM_005445.4(SMC3):c.2406T>C (p.Asp802=) rs934660926
NM_005445.4(SMC3):c.2472T>C (p.Ile824=) rs1861369074
NM_005445.4(SMC3):c.2892+9T>C rs1861393233
NM_005445.4(SMC3):c.3147T>C (p.Pro1049=) rs1861402400
NM_005445.4(SMC3):c.723+4A>T rs886046693
NM_005445.4(SMC3):c.929A>G (p.Lys310Arg) rs1861062802

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