ClinVar Miner

List of variants in gene MEF2C reported as uncertain significance for 5q14.3 microdeletion syndrome

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP
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.1373C>T (p.Ser458Phe) rs607159
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.434T>G (p.Ile145Ser) rs1366038563
NM_001131005.2(MEF2C):c.538A>G (p.Met180Val) rs1250885583
NM_001131005.2(MEF2C):c.579C>T (p.Asn193=) rs398123686
NM_001131005.2(MEF2C):c.583+6T>A rs1370610061
NM_001131005.2(MEF2C):c.724A>G (p.Met242Val) rs752349182
NM_001131005.2(MEF2C):c.830C>T (p.Ser277Leu) rs777826971
NM_001131005.2(MEF2C):c.950G>C (p.Ser317Thr) rs796052726

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