ClinVar Miner

List of variants studied for 5q14.3 microdeletion syndrome

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Total variants: 38
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HGVS dbSNP
MEF2C, 1-BP DUP, 99T
NC_000005.10:g.(?_88823715)_(88823808_?)del
NC_000005.10:g.88846693_89051376del204684insG
NM_001131005.2(MEF2C):c.113T>A (p.Leu38Gln) rs397514655
NM_001131005.2(MEF2C):c.608_620delCGTCTGGTGCAGGinsGTCTCCAC (p.Thr203Serfs) rs1554110298
NM_001131005.2(MEF2C):c.632-2A>C rs1554102556
NM_001131005.2(MEF2C):c.677C>G (p.Ser226Ter) rs267607233
NM_001131005.2(MEF2C):c.71G>A (p.Arg24Lys) rs869312698
NM_001131005.2(MEF2C):c.774dup (p.Pro259Thrfs)
NM_001131005.2(MEF2C):c.80G>C (p.Gly27Ala) rs397514656
NM_001131005.2(MEF2C):c.9A>T (p.Arg3Ser) rs876661308
NM_001193347.1(MEF2C):c.44G>A (p.Arg15His)
NM_001193350.1(MEF2C):c.860C>T (p.Ser287Leu) rs777826971
NM_002397.3(MEF2C):c.833delT (p.Leu278Terfs) rs587783749
NM_002397.4(MEF2C):c.108C>T (p.Ser36=) rs143129901
NM_002397.4(MEF2C):c.1247C>T (p.Ala416Val) rs768570497
NM_002397.4(MEF2C):c.1331A>C (p.His444Pro) rs1554098567
NM_002397.4(MEF2C):c.1403C>T (p.Ser468Phe) rs607159
NM_002397.4(MEF2C):c.180C>T (p.Thr60=) rs773278207
NM_002397.4(MEF2C):c.1A>G (p.Met1Val)
NM_002397.4(MEF2C):c.21G>T (p.Gln7His) rs1554150584
NM_002397.4(MEF2C):c.252C>T (p.Ile84=) rs780952466
NM_002397.4(MEF2C):c.258+7G>C rs372739987
NM_002397.4(MEF2C):c.2T>C (p.Met1Thr) rs545185248
NM_002397.4(MEF2C):c.312C>T (p.Asp104=) rs587781034
NM_002397.4(MEF2C):c.3G>C (p.Met1Ile)
NM_002397.4(MEF2C):c.440T>G (p.Ile147Ser)
NM_002397.4(MEF2C):c.447G>C (p.Val149=) rs1554112223
NM_002397.4(MEF2C):c.458del (p.Asn153Thrfs) rs730882192
NM_002397.4(MEF2C):c.544A>G (p.Met182Val)
NM_002397.4(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002397.4(MEF2C):c.585C>T (p.Asn195=) rs398123686
NM_002397.4(MEF2C):c.589+6T>A rs1370610061
NM_002397.4(MEF2C):c.615G>A (p.Thr205=) rs776496777
NM_002397.4(MEF2C):c.642C>T (p.Asn214=) rs79455305
NM_002397.4(MEF2C):c.68A>G (p.Lys23Arg) rs797045053
NM_002397.4(MEF2C):c.759A>G (p.Pro253=) rs368575766
NM_002397.4(MEF2C):c.980G>C (p.Ser327Thr) rs796052726

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