ClinVar Miner

List of variants reported as benign for Pitt-Hopkins-like syndrome by Athena Diagnostics Inc

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691

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