ClinVar Miner

List of variants in gene MEF2C reported as pathogenic for not provided

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Total variants: 24
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 5q14.3(chr5:88054762-88271992)x1
NM_001131005.2(MEF2C):c.805-887_805-884del rs1760863025
NM_002397.5(MEF2C):c.-26C>T rs758320958
NM_002397.5(MEF2C):c.-8C>T rs2153222958
NM_002397.5(MEF2C):c.100G>T (p.Glu34Ter) rs1057520584
NM_002397.5(MEF2C):c.109G>A (p.Val37Met)
NM_002397.5(MEF2C):c.258+2T>G rs1554139674
NM_002397.5(MEF2C):c.259-1G>A rs2152674810
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr) rs545185248
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys) rs796052728
NM_002397.5(MEF2C):c.44G>A (p.Arg15His) rs1202957297
NM_002397.5(MEF2C):c.45dup (p.Asn16Ter) rs1554150552
NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer) rs1554150543
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002397.5(MEF2C):c.566_567dup (p.Pro190fs) rs1554112069
NM_002397.5(MEF2C):c.637+2T>C rs1064793730
NM_002397.5(MEF2C):c.638-1G>A rs2152281284
NM_002397.5(MEF2C):c.638-2A>G rs1554102556
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter) rs1761818173
NM_002397.5(MEF2C):c.709C>T (p.Gln237Ter) rs1561698356
NM_002397.5(MEF2C):c.728del (p.Pro243fs) rs1581392920
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer) rs587783749
NM_002397.5(MEF2C):c.860C>A (p.Ser287Ter) rs777826971
NM_002397.5(MEF2C):c.926dup (p.Gly310fs) rs786200981

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