ClinVar Miner

List of variants in gene MEF2C studied for Inborn genetic diseases

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_002397.5(MEF2C):c.642C>T (p.Asn214=) rs79455305 0.00011
NM_002397.5(MEF2C):c.180C>T (p.Thr60=) rs773278207 0.00010
NM_002397.5(MEF2C):c.780A>G (p.Pro260=) rs776117674 0.00008
NM_002397.5(MEF2C):c.309G>A (p.Ala103=) rs567797470 0.00006
NM_002397.5(MEF2C):c.980G>C (p.Ser327Thr) rs796052726 0.00005
NM_002397.5(MEF2C):c.111G>A (p.Val37=) rs759783899 0.00004
NM_002397.5(MEF2C):c.312C>T (p.Asp104=) rs587781034 0.00004
NM_002397.5(MEF2C):c.34A>G (p.Met12Val) rs965091526 0.00004
NM_002397.5(MEF2C):c.822C>T (p.Val274=) rs1282449699 0.00002
NM_002397.5(MEF2C):c.1015G>A (p.Ala339Thr) rs778783316 0.00001
NM_002397.5(MEF2C):c.300C>T (p.Asp100=) rs1561876666 0.00001
NM_002397.5(MEF2C):c.308C>T (p.Ala103Val) rs755436703 0.00001
NM_002397.5(MEF2C):c.861G>A (p.Ser287=) rs185655344 0.00001
NM_002397.5(MEF2C):c.-26C>T rs758320958
NM_002397.5(MEF2C):c.1029C>G (p.His343Gln) rs796052727
NM_002397.5(MEF2C):c.113T>C (p.Leu38Pro) rs397514655
NM_002397.5(MEF2C):c.1235C>T (p.Thr412Met)
NM_002397.5(MEF2C):c.123_124del (p.Cys41_Glu42delinsTer) rs1554139771
NM_002397.5(MEF2C):c.1306C>A (p.Arg436=)
NM_002397.5(MEF2C):c.15G>T (p.Lys5Asn)
NM_002397.5(MEF2C):c.204_208del (p.Lys68fs)
NM_002397.5(MEF2C):c.214del (p.Tyr72fs) rs1554139723
NM_002397.5(MEF2C):c.261G>T (p.Thr87=) rs777529202
NM_002397.5(MEF2C):c.401_402+2del rs1561875779
NM_002397.5(MEF2C):c.430C>A (p.Pro144Thr)
NM_002397.5(MEF2C):c.553G>A (p.Gly185Ser)
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter) rs587783747
NM_002397.5(MEF2C):c.570T>A (p.Pro190=)
NM_002397.5(MEF2C):c.58A>T (p.Thr20Ser) rs1554139870
NM_002397.5(MEF2C):c.638-2A>C rs1554102556
NM_002397.5(MEF2C):c.64_77del (p.Thr22fs)
NM_002397.5(MEF2C):c.800T>C (p.Met267Thr) rs1561697163
NM_002397.5(MEF2C):c.896C>T (p.Ala299Val)

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