ClinVar Miner

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

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Gene type:
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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001330078.2(NRXN1):c.2239C>T (p.Arg747Ter) rs1359376928 0.00001
NM_001330078.2(NRXN1):c.3757C>T (p.Arg1253Ter) rs1201575289 0.00001
NC_000002.10:g.(50704258_51001003_51113677_?)del
NC_000002.11:g.(?_50214717_50293739_?)del
NC_000002.11:g.(?_50463907)_(50464128_?)del
NC_000002.11:g.(?_50463907)_(51255411_?)del
NC_000002.11:g.(?_50692560)_(50780183_?)del
NC_000002.11:g.(?_50723023)_(50780183_?)del
NC_000002.11:g.(?_51008023)_(51294599_?)del
NC_000002.11:g.(?_51148987)_(51255411_?)del
NC_000002.11:g.(?_51148997)_(51259192_?)del
NC_000002.11:g.(?_51153056)_(51255411_?)del
NC_000002.11:g.(?_51253489)_(51255411_?)del
NC_000002.11:g.(?_51254620)_(51255411_?)del
NC_000002.12:g.(?_50053251)_(50055064_?)del
NC_000002.12:g.(?_50528605)_(50553045_?)del
NC_000002.12:g.(?_50538233)_(50553045_?)del
NC_000002.12:g.(?_50620002)_(50623635_?)del
NC_000002.12:g.(?_50620002)_(51032054_?)del
NC_000002.12:g.(?_50921849)_(50925975_?)del
NC_000002.12:g.(?_50921849)_(51032054_?)del
NC_000002.12:g.(?_51026351)_(51032054_?)del
NM_001330078.2(NRXN1):c.-59_772+1193del
NM_001330078.2(NRXN1):c.1216_1217dup (p.Met407fs)
NM_001330078.2(NRXN1):c.1271_1272insACTTCCAGGGTCACCAA (p.Asp424fs)
NM_001330078.2(NRXN1):c.1463_1464del (p.Glu488fs)
NM_001330078.2(NRXN1):c.2100T>A (p.Cys700Ter)
NM_001330078.2(NRXN1):c.2225_2228dup (p.Leu744fs)
NM_001330078.2(NRXN1):c.2281dup (p.Arg761fs) rs2105207249
NM_001330078.2(NRXN1):c.2386G>T (p.Glu796Ter) rs1285800435
NM_001330078.2(NRXN1):c.2422G>T (p.Glu808Ter)
NM_001330078.2(NRXN1):c.2563C>T (p.Arg855Ter)
NM_001330078.2(NRXN1):c.2792del (p.Phe931fs) rs1388095672
NM_001330078.2(NRXN1):c.285dup (p.Phe96fs)
NM_001330078.2(NRXN1):c.2936C>G (p.Ser979Ter) rs267606922
NM_001330078.2(NRXN1):c.2963G>A (p.Trp988Ter)
NM_001330078.2(NRXN1):c.3218del (p.Asn1073fs)
NM_001330078.2(NRXN1):c.3411T>A (p.Tyr1137Ter)
NM_001330078.2(NRXN1):c.3430C>T (p.Arg1144Ter) rs1282230077
NM_001330078.2(NRXN1):c.3442C>T (p.Arg1148Ter) rs774740761
NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) rs199546979
NM_001330078.2(NRXN1):c.3778C>T (p.Arg1260Ter)
NM_001330078.2(NRXN1):c.3876del (p.Phe1293fs) rs1573629114
NM_001330078.2(NRXN1):c.4021_4022del (p.Thr1341fs) rs2152626377
NM_001330078.2(NRXN1):c.473_474del (p.Leu158fs)
NM_001330078.2(NRXN1):c.601G>T (p.Glu201Ter) rs756908062
NM_001330078.2(NRXN1):c.730_735delinsCTGG (p.Asp244fs) rs1670719129
NM_001330078.2(NRXN1):c.772+1102del rs1575270894
NM_001330078.2(NRXN1):c.772+1129_772+1132del rs2105317922
NM_001330078.2(NRXN1):c.822del (p.Ser276fs)

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