ClinVar Miner

List of variants reported as likely benign for Pitt-Hopkins-like syndrome 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
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_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_001330078.2(NRXN1):c.-217C>G rs201073462 0.00006
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520 0.00006
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val) rs199557987

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