ClinVar Miner

List of variants in gene NRXN1 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 153
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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
GRCh37/hg19 2p16.3(chr2:50280210-51109690)x1
GRCh37/hg19 2p16.3(chr2:50298398-50415002)x1
GRCh37/hg19 2p16.3(chr2:50352345-50520197)x1
GRCh37/hg19 2p16.3(chr2:50369632-50470202)x1
GRCh37/hg19 2p16.3(chr2:50516550-51259738)x1
GRCh37/hg19 2p16.3(chr2:50590641-50914155)x1
GRCh37/hg19 2p16.3(chr2:50671549-50860852)x1
GRCh37/hg19 2p16.3(chr2:50690712-51147280)x1
GRCh37/hg19 2p16.3(chr2:50707763-50793781)x1
GRCh37/hg19 2p16.3(chr2:50730130-50897456)
GRCh37/hg19 2p16.3(chr2:50765561-51220138)x1
GRCh37/hg19 2p16.3(chr2:50766007-50927534)x1
GRCh37/hg19 2p16.3(chr2:50770184-50813046)x1
GRCh37/hg19 2p16.3(chr2:50813343-50948464)
GRCh37/hg19 2p16.3(chr2:50824330-50996165)x1
GRCh37/hg19 2p16.3(chr2:50838594-51119793)
GRCh37/hg19 2p16.3(chr2:50838595-51078612)x1
GRCh37/hg19 2p16.3(chr2:50850691-51358881)
GRCh37/hg19 2p16.3(chr2:50861048-51874700)x1
GRCh37/hg19 2p16.3(chr2:50868551-51521625)x1
GRCh37/hg19 2p16.3(chr2:50871418-51603924)x1
GRCh37/hg19 2p16.3(chr2:50889123-51375539)x1
GRCh37/hg19 2p16.3(chr2:50899934-51556145)
GRCh37/hg19 2p16.3(chr2:50905757-51249333)x1
GRCh37/hg19 2p16.3(chr2:50947539-51512609)x1
GRCh37/hg19 2p16.3(chr2:50954599-51351114)x1
GRCh37/hg19 2p16.3(chr2:50964034-51227294)x1
GRCh37/hg19 2p16.3(chr2:50964034-51915187)
GRCh37/hg19 2p16.3(chr2:50975815-51328796)x1
GRCh37/hg19 2p16.3(chr2:50975816-51411126)x1
GRCh37/hg19 2p16.3(chr2:50980691-51236988)
GRCh37/hg19 2p16.3(chr2:50988748-51289587)x1
GRCh37/hg19 2p16.3(chr2:50991242-51158769)x1
GRCh37/hg19 2p16.3(chr2:50995812-51263065)
GRCh37/hg19 2p16.3(chr2:51002769-51188464)x1
GRCh37/hg19 2p16.3(chr2:51002884-51257328)x1
GRCh37/hg19 2p16.3(chr2:51003258-51209822)x1
GRCh37/hg19 2p16.3(chr2:51005771-51246088)x1
GRCh37/hg19 2p16.3(chr2:51009232-51492867)x1
GRCh37/hg19 2p16.3(chr2:51014918-51470037)x1
GRCh37/hg19 2p16.3(chr2:51027613-51216518)
GRCh37/hg19 2p16.3(chr2:51027613-51480512)x1
GRCh37/hg19 2p16.3(chr2:51032041-51189570)
GRCh37/hg19 2p16.3(chr2:51047025-51209824)x1
GRCh37/hg19 2p16.3(chr2:51051317-51539568)x1
GRCh37/hg19 2p16.3(chr2:51057959-51386797)x1
GRCh37/hg19 2p16.3(chr2:51062934-51433041)x1
GRCh37/hg19 2p16.3(chr2:51062935-51463501)x1
GRCh37/hg19 2p16.3(chr2:51078335-51562416)x1
GRCh37/hg19 2p16.3(chr2:51078336-51512609)x1
GRCh37/hg19 2p16.3(chr2:51080862-51411126)x1
GRCh37/hg19 2p16.3(chr2:51083410-51314371)x1
GRCh37/hg19 2p16.3(chr2:51083410-51382872)x1
GRCh37/hg19 2p16.3(chr2:51085470-51400479)x1
GRCh37/hg19 2p16.3(chr2:51089735-51263065)x1
GRCh37/hg19 2p16.3(chr2:51099779-51490709)x1
GRCh37/hg19 2p16.3(chr2:51107112-51206342)
GRCh37/hg19 2p16.3(chr2:51113043-51257100)x1
GRCh37/hg19 2p16.3(chr2:51118080-51348997)x1
GRCh37/hg19 2p16.3(chr2:51125057-51216518)
GRCh37/hg19 2p16.3(chr2:51125057-51216518)x1
GRCh37/hg19 2p16.3(chr2:51130351-51216518)x1
GRCh37/hg19 2p16.3(chr2:51139206-51602566)x1
GRCh37/hg19 2p16.3(chr2:51139921-51400512)x1
GRCh37/hg19 2p16.3(chr2:51141391-51324495)x1
GRCh37/hg19 2p16.3(chr2:51141570-51272118)x1
GRCh37/hg19 2p16.3(chr2:51146817-51854353)x1
GRCh37/hg19 2p16.3(chr2:51148272-51363855)x1
GRCh37/hg19 2p16.3(chr2:51148483-51259200)x1
GRCh37/hg19 2p16.3(chr2:51148483-51314430)x1
GRCh37/hg19 2p16.3(chr2:51150534-51188464)x1
GRCh37/hg19 2p16.3(chr2:51172123-51314430)
GRCh37/hg19 2p16.3(chr2:51183119-51354468)x1
GRCh37/hg19 2p16.3(chr2:51193626-51382813)x1
GRCh37/hg19 2p16.3(chr2:51193858-51433041)x1
GRCh37/hg19 2p16.3(chr2:51201101-51512609)x1
GRCh37/hg19 2p16.3(chr2:51225621-51304763)
GRCh37/hg19 2p16.3(chr2:51225621-51337449)x1
GRCh37/hg19 2p16.3(chr2:51229995-51363342)x1
GRCh37/hg19 2p16.3(chr2:51234059-51263065)
GRCh37/hg19 2p16.3(chr2:51238789-51309967)x1
GRCh37/hg19 2p16.3(chr2:51248751-51354468)x1
GRCh37/hg19 2p16.3(chr2:51251498-51491417)
GRCh38/hg38 2p16.3(chr2:50485201-50531213)x1
GRCh38/hg38 2p16.3(chr2:50710306-50999091)x1
GRCh38/hg38 2p16.3(chr2:50754975-50999091)x1
GRCh38/hg38 2p16.3(chr2:50827235-50953482)x1
GRCh38/hg38 2p16.3(chr2:50851255-50995129)x1
GRCh38/hg38 2p16.3(chr2:50856272-50999091)x1
GRCh38/hg38 2p16.3(chr2:50860917-51029929)x1
GRCh38/hg38 2p16.3(chr2:50915711-50999091)x1
GRCh38/hg38 2p16.3(chr2:50944985-51024360)x1
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.(?_50721552)_(50944617_?)del
NC_000002.12:g.(?_50921849)_(50925975_?)del
NC_000002.12:g.(?_50921849)_(51032054_?)del
NC_000002.12:g.(?_51026351)_(51032054_?)del
NM_001135659.3:c.(?_-921)_(931+1_932-1)del
NM_001330078.2(NRXN1):c.-59_772+1193del
NM_001330078.2(NRXN1):c.1066del (p.Glu356fs)
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.2085G>A (p.Trp695Ter) rs1553759318
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.2888del (p.His963fs) rs796052787
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.3245-2A>G rs886042846
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.443_446dup (p.Phe150fs) rs1575277408
NM_001330078.2(NRXN1):c.471dup (p.Leu158fs)
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+1128_772+1129del rs1558610072
NM_001330078.2(NRXN1):c.772+1129_772+1132del rs2105317922
NM_001330078.2(NRXN1):c.773-1G>T rs1574949440
NM_001330078.2(NRXN1):c.822del (p.Ser276fs)
Single allele

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