ClinVar Miner

List of variants in gene SEMA3E reported as likely benign for CHARGE association

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Total variants: 15
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HGVS dbSNP
NM_012431.3(SEMA3E):c.1347C>T (p.Asp449=) rs148072082
NM_012431.3(SEMA3E):c.1348G>A (p.Val450Ile) rs190791287
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=) rs757610572
NM_012431.3(SEMA3E):c.1834A>T (p.Ile612Phe) rs560983031
NM_012431.3(SEMA3E):c.186G>T (p.Leu62=) rs148264760
NM_012431.3(SEMA3E):c.1876-4G>T rs1321372061
NM_012431.3(SEMA3E):c.1959T>C (p.Phe653=) rs755163849
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys)
NM_012431.3(SEMA3E):c.2220A>G (p.Lys740=) rs765040215
NM_012431.3(SEMA3E):c.264C>T (p.Asp88=) rs142305186
NM_012431.3(SEMA3E):c.396C>G (p.Thr132=) rs1584267738
NM_012431.3(SEMA3E):c.671-10G>A rs372840645
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=) rs143878781
NM_012431.3(SEMA3E):c.870G>A (p.Ala290=) rs756513699
NM_012431.3(SEMA3E):c.999-9A>G rs776954864

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