ClinVar Miner

List of variants reported as likely benign for 5q14.3 microdeletion syndrome by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_002397.5(MEF2C):c.108C>T (p.Ser36=) rs143129901
NM_002397.5(MEF2C):c.261G>A (p.Thr87=) rs777529202
NM_002397.5(MEF2C):c.397T>C (p.Leu133=) rs1345329569
NM_002397.5(MEF2C):c.423C>T (p.Phe141=) rs774945849
NM_002397.5(MEF2C):c.447G>C (p.Val149=) rs1554112223
NM_002397.5(MEF2C):c.585C>T (p.Asn195=) rs398123686
NM_002397.5(MEF2C):c.615G>A (p.Thr205=) rs776496777
NM_002397.5(MEF2C):c.759A>G (p.Pro253=) rs368575766
NM_002397.5(MEF2C):c.822C>T (p.Val274=) rs1282449699
NM_002397.5(MEF2C):c.980G>C (p.Ser327Thr) rs796052726

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