ClinVar Miner

List of variants studied for Cohen-Gibson syndrome

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP
NM_003797.5(EED):c.1062G>A (p.Gly354=) rs776126866
NM_003797.5(EED):c.1097T>C (p.Met366Thr) rs1565706229
NM_003797.5(EED):c.198A>G (p.Lys66=) rs182106684
NM_003797.5(EED):c.438C>G (p.Asn146Lys) rs1565692818
NM_003797.5(EED):c.707G>C (p.Arg236Thr) rs1131692176
NM_003797.5(EED):c.772C>T (p.His258Tyr) rs1131692174
NM_003797.5(EED):c.880A>G (p.Ile294Val)
NM_003797.5(EED):c.904A>G (p.Arg302Gly) rs1131692175
NM_003797.5(EED):c.906A>C (p.Arg302Ser) rs1131692173

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