ClinVar Miner

List of variants reported as benign for Cohen-Gibson syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_003797.5(EED):c.727-8G>A rs10898460 0.80219
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.1062G>A (p.Gly354=) rs776126866 0.00015
NM_003797.5(EED):c.114+18C>T
NM_003797.5(EED):c.1199+8_1199+11del rs372689705
NM_003797.5(EED):c.264C>T (p.Leu88=)
NM_003797.5(EED):c.267+20C>G
NM_003797.5(EED):c.619C>T (p.Leu207=) rs974144
NM_003797.5(EED):c.966+19A>C

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