ClinVar Miner

List of variants studied for Cohen-Gibson syndrome by Invitae

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_003797.5(EED):c.727-8G>A rs10898460 0.80219
NM_003797.5(EED):c.532A>G (p.Ile178Val) rs147440081 0.00041
NM_003797.5(EED):c.148A>C (p.Thr50Pro) rs149126431 0.00038
NM_003797.5(EED):c.1275T>C (p.Leu425=) rs149703831 0.00035
NM_003797.5(EED):c.1199+10T>C rs79218214 0.00017
NM_003797.5(EED):c.820A>G (p.Ile274Val) rs367891435 0.00016
NM_003797.5(EED):c.1062G>A (p.Gly354=) rs776126866 0.00015
NM_003797.5(EED):c.78C>T (p.Asp26=) rs140683797 0.00008
NM_003797.5(EED):c.198A>G (p.Lys66=) rs182106684 0.00007
NM_003797.5(EED):c.268-3T>C rs200197749 0.00007
NM_003797.5(EED):c.96C>T (p.Asp32=) rs779705890 0.00005
NM_003797.5(EED):c.1257C>T (p.Ser419=) rs751819549 0.00004
NM_003797.5(EED):c.361-19G>A rs760341445 0.00004
NM_003797.5(EED):c.9G>T (p.Glu3Asp) rs773510026 0.00003
NM_003797.5(EED):c.477C>T (p.Ser159=) rs778911575 0.00002
NM_003797.5(EED):c.177G>A (p.Thr59=) rs1202669117 0.00001
NM_003797.5(EED):c.441T>C (p.Phe147=) rs777795883 0.00001
NM_003797.5(EED):c.44T>G (p.Met15Arg) rs1200518953 0.00001
NM_003797.5(EED):c.880A>G (p.Ile294Val) rs781731485 0.00001
NM_003797.5(EED):c.1018A>G (p.Ile340Val)
NM_003797.5(EED):c.114+18C>T
NM_003797.5(EED):c.114+4A>C
NM_003797.5(EED):c.1199+8_1199+11del rs372689705
NM_003797.5(EED):c.11G>A (p.Arg4Lys) rs766472086
NM_003797.5(EED):c.11G>T (p.Arg4Met)
NM_003797.5(EED):c.1242A>G (p.Arg414=)
NM_003797.5(EED):c.17T>C (p.Val6Ala) rs752828124
NM_003797.5(EED):c.216A>G (p.Lys72=)
NM_003797.5(EED):c.264C>T (p.Leu88=)
NM_003797.5(EED):c.266del (p.Lys89fs)
NM_003797.5(EED):c.267+20C>G
NM_003797.5(EED):c.268-7_268-3del
NM_003797.5(EED):c.36A>G (p.Gly12=)
NM_003797.5(EED):c.397C>T (p.Arg133Trp) rs745786094
NM_003797.5(EED):c.438C>G (p.Asn146Lys) rs1565692818
NM_003797.5(EED):c.4T>C (p.Ser2Pro)
NM_003797.5(EED):c.552+4G>A
NM_003797.5(EED):c.619C>T (p.Leu207=) rs974144
NM_003797.5(EED):c.6C>T (p.Ser2=)
NM_003797.5(EED):c.726+19G>A
NM_003797.5(EED):c.726T>C (p.Ala242=)
NM_003797.5(EED):c.882C>A (p.Ile294=)
NM_003797.5(EED):c.923A>G (p.Tyr308Cys)
NM_003797.5(EED):c.930T>C (p.Asp310=)
NM_003797.5(EED):c.966+19A>C
NM_003797.5(EED):c.969T>A (p.Ser323=)

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