ClinVar Miner

List of variants in gene NRXN1 reported as likely benign for Pitt-Hopkins-like syndrome 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP
NM_001135659.2(NRXN1):c.1233+8C>T rs200448187
NM_001135659.2(NRXN1):c.1389C>T (p.Ala463=) rs753264637
NM_001135659.2(NRXN1):c.1869C>T (p.Asp623=) rs199934259
NM_001135659.2(NRXN1):c.1920T>C (p.Ala640=) rs1553760251
NM_001135659.2(NRXN1):c.2157G>A (p.Pro719=) rs199714221
NM_001135659.2(NRXN1):c.2566C>A (p.Arg856=) rs200325059
NM_001135659.2(NRXN1):c.2618-7C>T rs369071366
NM_001135659.2(NRXN1):c.261C>A (p.Gly87=) rs587781102
NM_001135659.2(NRXN1):c.2646G>A (p.Leu882=) rs868353645
NM_001135659.2(NRXN1):c.276C>T (p.Ser92=) rs1553516780
NM_001135659.2(NRXN1):c.2949A>G (p.Leu983=) rs754048752
NM_001135659.2(NRXN1):c.3249A>G (p.Val1083=) rs200698497
NM_001135659.2(NRXN1):c.324G>A (p.Pro108=) rs199595253
NM_001135659.2(NRXN1):c.330C>T (p.Asn110=) rs756402228
NM_001135659.2(NRXN1):c.3498T>C (p.Tyr1166=) rs1420076341
NM_001135659.2(NRXN1):c.3838+7A>G rs752561425
NM_001135659.2(NRXN1):c.417G>A (p.Glu139=) rs757453009
NM_001135659.2(NRXN1):c.4296T>C (p.Asp1432=) rs201135028
NM_001135659.2(NRXN1):c.4458T>C (p.Leu1486=) rs796052759
NM_001135659.2(NRXN1):c.498G>A (p.Ala166=) rs201212909
NM_001135659.2(NRXN1):c.963A>G (p.Gly321=) rs373654735
NM_001330078.2(NRXN1):c.1059A>C (p.Ala353=) rs200259338
NM_001330078.2(NRXN1):c.108C>T (p.Ala36=) rs199871750
NM_001330078.2(NRXN1):c.1135-8C>T rs1430859209
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) rs201837579
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732
NM_001330078.2(NRXN1):c.2625T>C (p.Asn875=) rs764347791
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=) rs201886024
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029
NM_001330078.2(NRXN1):c.3365-110131T>G rs193267438
NM_001330078.2(NRXN1):c.3595G>A (p.Ala1199Thr) rs201336161
NM_001330078.2(NRXN1):c.4060A>T (p.Thr1354Ser) rs202006815
NM_001330078.2(NRXN1):c.4107G>A (p.Pro1369=) rs183440866
NM_001330078.2(NRXN1):c.4167C>G (p.Pro1389=) rs143446587
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) rs55923848
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=) rs112536447
NM_001330078.2(NRXN1):c.546G>A (p.Gly182=) rs1464488808
NM_001330078.2(NRXN1):c.726G>A (p.Val242=) rs201349397
NM_001330078.2(NRXN1):c.753C>A (p.Arg251=) rs770481343
NM_001330078.2(NRXN1):c.772+1078A>G rs144049982
NM_001330078.2(NRXN1):c.798G>A (p.Ala266=) rs201027928
NM_001330078.2(NRXN1):c.804G>C (p.Leu268=) rs1553364040
NM_001330078.2(NRXN1):c.833-5T>G rs199712573
NM_001330078.2(NRXN1):c.9G>C (p.Thr3=) rs770820205

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.