ClinVar Miner

List of variants reported as likely benign for Pitt-Hopkins-like syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_014141.6(CNTNAP2):c.2099-15T>C rs75858942 0.04429
NM_014141.6(CNTNAP2):c.*3531G>A rs79360609 0.04371
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128 0.03626
NM_014141.6(CNTNAP2):c.*3392C>T rs115420302 0.02775
NM_014141.6(CNTNAP2):c.*3540G>A rs114585910 0.02773
NM_014141.6(CNTNAP2):c.*2151A>G rs28369221 0.02742
NM_014141.6(CNTNAP2):c.3476-15C>A rs77706740 0.02606
NM_014141.6(CNTNAP2):c.*2875dup rs138367128 0.02522
NM_014141.6(CNTNAP2):c.*1017T>G rs77001133 0.02487
NM_014141.6(CNTNAP2):c.3797-6C>T rs79777576 0.01899
NM_014141.6(CNTNAP2):c.*3921G>A rs141005348 0.01856
NM_014141.6(CNTNAP2):c.*2665C>T rs7791181 0.01854
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853 0.01773
NM_014141.6(CNTNAP2):c.*48G>A rs78018010 0.01715
NM_014141.6(CNTNAP2):c.*1433A>G rs78484397 0.01362
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849 0.01075
NM_001330078.2(NRXN1):c.-209A>G rs112715587 0.00460
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732 0.00458
NM_001330078.2(NRXN1):c.*573A>C rs184870922 0.00349
NM_001135659.2(NRXN1):c.-1394G>T rs190774311 0.00292
NM_014141.6(CNTNAP2):c.*4071G>A rs147886818 0.00288
NM_014141.6(CNTNAP2):c.*3433G>A rs142623983 0.00279
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670 0.00264
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693 0.00253
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073 0.00236
NM_001330078.2(NRXN1):c.*2277G>A rs187875122 0.00210
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) rs113380721 0.00191
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237 0.00166
NM_001330078.2(NRXN1):c.772+1078A>G rs144049982 0.00153
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) rs200248561 0.00145
NM_001330078.2(NRXN1):c.222C>T (p.Gly74=) rs201592993 0.00135
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) rs143495349 0.00096
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152 0.00069
NM_014141.6(CNTNAP2):c.*3796C>T rs183556756 0.00053
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654 0.00029
NM_014141.6(CNTNAP2):c.*1482A>T rs186254614 0.00018
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr) rs201326295 0.00017
NM_001330078.2(NRXN1):c.-217C>G rs201073462 0.00006
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520 0.00006
NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln) rs189731792 0.00005
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_001330078.2(NRXN1):c.*941dup rs3839057
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val) rs199557987
NM_014141.6(CNTNAP2):c.*1276_*1280dup rs369615005
NM_014141.6(CNTNAP2):c.*2260C>A rs186600344
NM_014141.6(CNTNAP2):c.*818dup rs145690138
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537

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