ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP
NM_012431.3(SEMA3E):c.1272G>A (p.Leu424=) rs2722974
NM_012431.3(SEMA3E):c.1566T>C (p.Tyr522=) rs61636768
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) rs186628513
NM_012431.3(SEMA3E):c.1722A>T (p.Gly574=) rs61729608
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile) rs142204796
NM_012431.3(SEMA3E):c.2149A>G (p.Ile717Val) rs61729610
NM_012431.3(SEMA3E):c.2211A>G (p.Arg737=) rs2371545
NM_012431.3(SEMA3E):c.2283C>T (p.Ser761=) rs80079143
NM_012431.3(SEMA3E):c.337-9C>T rs1352755933
NM_012431.3(SEMA3E):c.603G>T (p.Ala201=) rs2722985
NM_012431.3(SEMA3E):c.623G>C (p.Arg208Pro) rs61729612
NM_012431.3(SEMA3E):c.900T>C (p.Asn300=) rs28505908
NM_012431.3(SEMA3E):c.951C>G (p.Thr317=) rs201663991

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