List of variants reported as benign for Pitt-Hopkins-like syndrome

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_014141.6(CNTNAP2):c.*4797G>C	rs2717829	0.82590
NM_014141.6(CNTNAP2):c.*279C>A	rs987456	0.71838
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=)	rs9648691	0.57506
NM_014141.5(CNTNAP2):c.-115G>A	rs2462603	0.49254
NM_014141.6(CNTNAP2):c.*2157A>G	rs1062072	0.48864
NM_014141.6(CNTNAP2):c.*3742A>G	rs2530311	0.47166
NM_014141.6(CNTNAP2):c.551-11_551-10insG	rs35167289	0.42413
NM_014141.6(CNTNAP2):c.*1557A>C	rs3194	0.35771
NM_014141.6(CNTNAP2):c.*4934C>T	rs2530310	0.34059
NM_014141.6(CNTNAP2):c.*1187G>A	rs2530312	0.33729
NM_014141.6(CNTNAP2):c.*2921C>T	rs10243309	0.22898
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=)	rs10240503	0.22240
NM_014141.6(CNTNAP2):c.1777+10A>G	rs2286127	0.20355
NM_014141.6(CNTNAP2):c.3248-4A>G	rs3779031	0.18203
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=)	rs34592169	0.17471
NM_014141.6(CNTNAP2):c.*4738C>G	rs10251347	0.15342
NM_014141.6(CNTNAP2):c.*4839G>A	rs10280038	0.11146
NM_014141.6(CNTNAP2):c.*3144A>G	rs17170999	0.11137
NM_014141.6(CNTNAP2):c.*3928C>T	rs73473919	0.11111
NM_014141.6(CNTNAP2):c.*1059A>T	rs1062071	0.09994
NM_001330078.2(NRXN1):c.967_970dup	rs3839058
NM_014141.6(CNTNAP2):c.*1175TCTT[1]	rs72035437
NM_014141.6(CNTNAP2):c.*175dup	rs61125105
NM_014141.6(CNTNAP2):c.2935_2936del	rs544152145
NM_014141.6(CNTNAP2):c.*3999dup	rs35835723
NM_014141.6(CNTNAP2):c.*600CTGA[3]	rs3058181
NM_014141.6(CNTNAP2):c.*916TAGTT[1]	rs569195865

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