ClinVar Miner

List of variants studied for 5q14.3 microdeletion syndrome by Invitae

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Total variants: 24
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HGVS dbSNP
NC_000005.9:g.(?_88119532)_(88119625_?)del
NM_001131005.2(MEF2C):c.108C>T (p.Ser36=) rs143129901
NM_001131005.2(MEF2C):c.1217C>T (p.Ala406Val) rs768570497
NM_001131005.2(MEF2C):c.1301A>C (p.His434Pro) rs1554098567
NM_001131005.2(MEF2C):c.1355T>C (p.Val452Ala)
NM_001131005.2(MEF2C):c.180C>T (p.Thr60=) rs773278207
NM_001131005.2(MEF2C):c.192dup (p.Val65fs)
NM_001131005.2(MEF2C):c.1A>G (p.Met1Val) rs1432291994
NM_001131005.2(MEF2C):c.21G>T (p.Gln7His) rs1554150584
NM_001131005.2(MEF2C):c.252C>T (p.Ile84=) rs780952466
NM_001131005.2(MEF2C):c.258+7G>C rs372739987
NM_001131005.2(MEF2C):c.259-150C>T rs587781034
NM_001131005.2(MEF2C):c.434T>G (p.Ile145Ser) rs1366038563
NM_001131005.2(MEF2C):c.441G>C (p.Val147=) rs1554112223
NM_001131005.2(MEF2C):c.538A>G (p.Met180Val) rs1250885583
NM_001131005.2(MEF2C):c.583+6T>A rs1370610061
NM_001131005.2(MEF2C):c.608_620delinsGTCTCCAC (p.Thr203fs) rs1554110298
NM_001131005.2(MEF2C):c.609G>A (p.Thr203=) rs776496777
NM_001131005.2(MEF2C):c.636C>T (p.Asn212=) rs79455305
NM_001131005.2(MEF2C):c.724A>G (p.Met242Val) rs752349182
NM_001131005.2(MEF2C):c.753A>G (p.Pro251=) rs368575766
NM_001131005.2(MEF2C):c.774dup (p.Pro259fs) rs1561697465
NM_001131005.2(MEF2C):c.878dup (p.Leu293fs)
NM_001131005.2(MEF2C):c.950G>C (p.Ser317Thr) rs796052726

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