ClinVar Miner

List of variants in gene NRXN1 studied for Inborn genetic diseases

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Gene type:
ClinVar version:
Total variants: 208
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HGVS dbSNP gnomAD frequency
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=) rs1045874 0.17452
NM_001330078.2(NRXN1):c.3365-109930G>T rs13413205 0.06571
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298 0.01844
NM_001330078.2(NRXN1):c.3249C>T (p.Pro1083=) rs116236999 0.00578
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=) rs115211871 0.00535
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732 0.00458
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316 0.00323
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237 0.00166
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) rs201941844 0.00155
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.322C>T (p.Pro108Ser) rs199784029 0.00138
NM_001330078.2(NRXN1):c.222C>T (p.Gly74=) rs201592993 0.00135
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642 0.00109
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=) rs200182626 0.00083
NM_001330078.2(NRXN1):c.3365-109830G>A rs148517834 0.00074
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504 0.00074
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152 0.00069
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=) rs75275592 0.00069
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139 0.00064
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val) rs200074974 0.00062
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=) rs55640811 0.00059
NM_001330078.2(NRXN1):c.24C>T (p.Arg8=) rs200113281 0.00057
NM_001330078.2(NRXN1):c.4167C>G (p.Pro1389=) rs143446587 0.00053
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684 0.00051
NM_001330078.2(NRXN1):c.723C>G (p.Ala241=) rs200153066 0.00045
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00044
NM_001330078.2(NRXN1):c.833-5T>G rs199712573 0.00038
NM_001330078.2(NRXN1):c.772+1118G>A rs201194822 0.00026
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His) rs199978276 0.00025
NM_001330078.2(NRXN1):c.3365-109939C>T rs766942777 0.00024
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp) rs372311299 0.00021
NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly) rs200184823 0.00019
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) rs200698497 0.00019
NM_001330078.2(NRXN1):c.4176T>C (p.Asp1392=) rs201135028 0.00016
NM_001330078.2(NRXN1):c.479C>T (p.Pro160Leu) rs371517584 0.00016
NM_001330078.2(NRXN1):c.108C>T (p.Ala36=) rs199871750 0.00014
NM_001330078.2(NRXN1):c.2036C>T (p.Pro679Leu) rs201735573 0.00014
NM_001330078.2(NRXN1):c.2193C>T (p.Leu731=) rs201466898 0.00014
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130 0.00013
NM_001330078.2(NRXN1):c.4029G>A (p.Met1343Ile) rs146100580 0.00013
NM_001330078.2(NRXN1):c.3365-109899A>G rs562219421 0.00012
NM_001330078.2(NRXN1):c.37C>T (p.Leu13Phe) rs201674835 0.00012
NM_001330078.2(NRXN1):c.772+1050C>A rs367919055 0.00012
NM_001330078.2(NRXN1):c.772+1040A>T rs201741449 0.00011
NM_001330078.2(NRXN1):c.1050C>G (p.Ala350=) rs201397488 0.00010
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=) rs201886024 0.00010
NM_001330078.2(NRXN1):c.749T>A (p.Phe250Tyr) rs200646155 0.00010
NM_001330078.2(NRXN1):c.821-4A>G rs768708962 0.00009
NM_001330078.2(NRXN1):c.1978G>A (p.Ala660Thr) rs199939303 0.00008
NM_001330078.2(NRXN1):c.2037G>A (p.Pro679=) rs199714221 0.00008
NM_001330078.2(NRXN1):c.2628A>G (p.Gly876=) rs781698676 0.00008
NM_001330078.2(NRXN1):c.3365-109836G>T rs747566761 0.00008
NM_001330078.2(NRXN1):c.4060A>T (p.Thr1354Ser) rs202006815 0.00008
NM_001330078.2(NRXN1):c.122C>T (p.Thr41Met) rs995509296 0.00007
NM_001330078.2(NRXN1):c.2437C>T (p.Arg813Cys) rs201150987 0.00007
NM_001330078.2(NRXN1):c.412G>T (p.Val138Leu) rs374644929 0.00007
NM_001330078.2(NRXN1):c.847A>G (p.Ile283Val) rs748218169 0.00007
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) rs201837579 0.00006
NM_001330078.2(NRXN1):c.1887C>T (p.Thr629=) rs200603742 0.00006
NM_001330078.2(NRXN1):c.2109C>T (p.Ser703=) rs200456688 0.00006
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520 0.00006
NM_001330078.2(NRXN1):c.4004C>T (p.Thr1335Ile) rs200672080 0.00006
NM_001330078.2(NRXN1):c.4229G>A (p.Arg1410Gln) rs1191478388 0.00006
NM_001330078.2(NRXN1):c.2336C>T (p.Thr779Met) rs200391188 0.00005
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) rs199960045 0.00005
NM_001330078.2(NRXN1):c.3219C>T (p.Asn1073=) rs563089155 0.00005
NM_001330078.2(NRXN1):c.622C>G (p.Pro208Ala) rs200171245 0.00005
NM_001330078.2(NRXN1):c.1779G>A (p.Thr593=) rs200817371 0.00004
NM_001330078.2(NRXN1):c.1947C>T (p.Ile649=) rs539484479 0.00004
NM_001330078.2(NRXN1):c.2196C>T (p.Pro732=) rs549242356 0.00004
NM_001330078.2(NRXN1):c.3344G>A (p.Ser1115Asn) rs201871194 0.00004
NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=) rs587781101 0.00004
NM_001330078.2(NRXN1):c.475C>T (p.Pro159Ser) rs770277678 0.00004
NM_001330078.2(NRXN1):c.805A>T (p.Met269Leu) rs776779952 0.00004
NM_001330078.2(NRXN1):c.2138A>G (p.Glu713Gly) rs765314273 0.00003
NM_001330078.2(NRXN1):c.2438G>A (p.Arg813His) rs773464948 0.00003
NM_001330078.2(NRXN1):c.3254C>T (p.Thr1085Ile) rs796052784 0.00003
NM_001330078.2(NRXN1):c.3365-109897G>C rs777054372 0.00003
NM_001330078.2(NRXN1):c.3612T>A (p.Asn1204Lys) rs757509384 0.00003
NM_001330078.2(NRXN1):c.420C>G (p.Val140=) rs751401940 0.00003
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) rs201481698 0.00003
NM_001330078.2(NRXN1):c.1885A>C (p.Thr629Pro) rs752252507 0.00002
NM_001330078.2(NRXN1):c.2643C>T (p.Asp881=) rs1196816567 0.00002
NM_001330078.2(NRXN1):c.283A>G (p.Ile95Val) rs778259562 0.00002
NM_001330078.2(NRXN1):c.2970C>T (p.Asn990=) rs534591485 0.00002
NM_001330078.2(NRXN1):c.347G>C (p.Ser116Thr) rs751348647 0.00002
NM_001330078.2(NRXN1):c.4428A>G (p.Ala1476=) rs184343684 0.00002
NM_001330078.2(NRXN1):c.450C>T (p.Phe150=) rs766193025 0.00002
NM_001330078.2(NRXN1):c.476C>T (p.Pro159Leu) rs373070672 0.00002
NM_001330078.2(NRXN1):c.609G>C (p.Lys203Asn) rs759842391 0.00002
NM_001330078.2(NRXN1):c.610C>A (p.Leu204Met) rs777133701 0.00002
NM_001330078.2(NRXN1):c.690C>T (p.Asn230=) rs200930363 0.00002
NM_001330078.2(NRXN1):c.772+1094A>C rs200332062 0.00002
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=) rs201485014 0.00001
NM_001330078.2(NRXN1):c.1382C>T (p.Pro461Leu) rs530674644 0.00001
NM_001330078.2(NRXN1):c.1459C>G (p.Pro487Ala) rs1431790300 0.00001
NM_001330078.2(NRXN1):c.1679C>A (p.Thr560Asn) rs200332295 0.00001
NM_001330078.2(NRXN1):c.1858G>A (p.Glu620Lys) rs373626168 0.00001
NM_001330078.2(NRXN1):c.2585C>T (p.Pro862Leu) rs776749848 0.00001
NM_001330078.2(NRXN1):c.2623A>G (p.Asn875Asp) rs201243629 0.00001
NM_001330078.2(NRXN1):c.262C>G (p.Arg88Gly) rs748684256 0.00001
NM_001330078.2(NRXN1):c.2658C>T (p.Gly886=) rs752920557 0.00001
NM_001330078.2(NRXN1):c.2698A>C (p.Arg900=) rs574531814 0.00001
NM_001330078.2(NRXN1):c.2774C>T (p.Thr925Ile) rs771259780 0.00001
NM_001330078.2(NRXN1):c.2967C>T (p.His989=) rs1449052965 0.00001
NM_001330078.2(NRXN1):c.3165A>G (p.Ser1055=) rs1553656447 0.00001
NM_001330078.2(NRXN1):c.3205G>A (p.Ala1069Thr) rs192848776 0.00001
NM_001330078.2(NRXN1):c.32G>A (p.Cys11Tyr) rs796052766 0.00001
NM_001330078.2(NRXN1):c.3353T>G (p.Leu1118Arg) rs751798190 0.00001
NM_001330078.2(NRXN1):c.3365-109865C>T rs202059067 0.00001
NM_001330078.2(NRXN1):c.35T>G (p.Phe12Cys) rs1298445857 0.00001
NM_001330078.2(NRXN1):c.370C>T (p.Arg124Cys) rs202244228 0.00001
NM_001330078.2(NRXN1):c.4128+4A>G rs375738111 0.00001
NM_001330078.2(NRXN1):c.4220A>G (p.Asn1407Ser) rs146968018 0.00001
NM_001330078.2(NRXN1):c.521T>C (p.Val174Ala) rs545577149 0.00001
NM_001330078.2(NRXN1):c.76G>C (p.Glu26Gln) rs201847846 0.00001
NM_001330078.2(NRXN1):c.771A>G (p.Gln257=) rs1307802785 0.00001
NM_001330078.2(NRXN1):c.772+1113G>A rs747588143 0.00001
NM_001330078.2(NRXN1):c.781A>G (p.Asn261Asp) rs781179797 0.00001
NM_001330078.2(NRXN1):c.832+2dup rs1344399066 0.00001
NM_001330078.2(NRXN1):c.864A>G (p.Gly288=) rs373654735 0.00001
NM_001330078.2(NRXN1):c.987T>C (p.Asp329=) rs1404653942 0.00001
NM_001330078.2(NRXN1):c.-4G>A rs1558617962
NM_001330078.2(NRXN1):c.1135-5C>A
NM_001330078.2(NRXN1):c.1215T>C (p.Tyr405=)
NM_001330078.2(NRXN1):c.1275T>C (p.Leu425=) rs1559029940
NM_001330078.2(NRXN1):c.127T>C (p.Phe43Leu)
NM_001330078.2(NRXN1):c.12G>A (p.Ala4=)
NM_001330078.2(NRXN1):c.1339G>C (p.Asp447His)
NM_001330078.2(NRXN1):c.1362A>G (p.Arg454=)
NM_001330078.2(NRXN1):c.1377A>G (p.Gly459=) rs1352621512
NM_001330078.2(NRXN1):c.1512A>T (p.Ile504=)
NM_001330078.2(NRXN1):c.1526G>A (p.Arg509His)
NM_001330078.2(NRXN1):c.1528A>G (p.Thr510Ala)
NM_001330078.2(NRXN1):c.1536G>A (p.Glu512=)
NM_001330078.2(NRXN1):c.1640A>C (p.Asp547Ala)
NM_001330078.2(NRXN1):c.1754G>T (p.Arg585Leu)
NM_001330078.2(NRXN1):c.188C>T (p.Ala63Val) rs1007566859
NM_001330078.2(NRXN1):c.1948G>C (p.Asp650His) rs202137841
NM_001330078.2(NRXN1):c.1995T>G (p.Thr665=)
NM_001330078.2(NRXN1):c.2002G>T (p.Val668Leu)
NM_001330078.2(NRXN1):c.2006A>T (p.Lys669Met)
NM_001330078.2(NRXN1):c.2008C>T (p.Pro670Ser)
NM_001330078.2(NRXN1):c.2027C>T (p.Thr676Ile)
NM_001330078.2(NRXN1):c.20A>G (p.Gln7Arg) rs1558617775
NM_001330078.2(NRXN1):c.2150C>T (p.Thr717Met)
NM_001330078.2(NRXN1):c.2151G>T (p.Thr717=) rs200768648
NM_001330078.2(NRXN1):c.2274C>A (p.Thr758=) rs78030925
NM_001330078.2(NRXN1):c.2284G>A (p.Asp762Asn)
NM_001330078.2(NRXN1):c.2288C>G (p.Ser763Cys) rs1558889761
NM_001330078.2(NRXN1):c.2317G>T (p.Ala773Ser) rs199548487
NM_001330078.2(NRXN1):c.2450G>T (p.Arg817Leu) rs201873057
NM_001330078.2(NRXN1):c.2473G>A (p.Val825Met)
NM_001330078.2(NRXN1):c.2479G>T (p.Asp827Tyr) rs971099049
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val) rs199557987
NM_001330078.2(NRXN1):c.2569T>C (p.Tyr857His) rs1558834284
NM_001330078.2(NRXN1):c.2631G>A (p.Met877Ile) rs2104920017
NM_001330078.2(NRXN1):c.2719G>A (p.Val907Ile)
NM_001330078.2(NRXN1):c.2792del (p.Phe931fs) rs1388095672
NM_001330078.2(NRXN1):c.2814A>G (p.Leu938=) rs902243141
NM_001330078.2(NRXN1):c.2888A>G (p.His963Arg) rs1558830787
NM_001330078.2(NRXN1):c.2948T>C (p.Leu983Pro) rs2091595186
NM_001330078.2(NRXN1):c.2977A>G (p.Ile993Val)
NM_001330078.2(NRXN1):c.300T>G (p.Pro100=) rs753793668
NM_001330078.2(NRXN1):c.3033G>T (p.Thr1011=) rs764611037
NM_001330078.2(NRXN1):c.3076T>A (p.Leu1026Ile) rs1558790614
NM_001330078.2(NRXN1):c.3124C>T (p.Leu1042Phe) rs1558790367
NM_001330078.2(NRXN1):c.3172T>C (p.Leu1058=)
NM_001330078.2(NRXN1):c.3357C>T (p.Cys1119=)
NM_001330078.2(NRXN1):c.3365-109737C>T
NM_001330078.2(NRXN1):c.3365-109748T>C
NM_001330078.2(NRXN1):c.3365-109918G>A
NM_001330078.2(NRXN1):c.3365-109930GCG[8] rs750165040
NM_001330078.2(NRXN1):c.3365-109930GCG[9] rs750165040
NM_001330078.2(NRXN1):c.3365-109931_3365-109930insGTC rs1488321830
NM_001330078.2(NRXN1):c.3365-109932_3365-109927dup rs2078032746
NM_001330078.2(NRXN1):c.3365-109941C>A
NM_001330078.2(NRXN1):c.3365-109963T>C
NM_001330078.2(NRXN1):c.3365-109982G>A
NM_001330078.2(NRXN1):c.3490G>A (p.Val1164Ile) rs201881725
NM_001330078.2(NRXN1):c.3515C>T (p.Ser1172Leu)
NM_001330078.2(NRXN1):c.3541C>T (p.His1181Tyr) rs377333818
NM_001330078.2(NRXN1):c.3596C>T (p.Ala1199Val)
NM_001330078.2(NRXN1):c.371G>C (p.Arg124Pro)
NM_001330078.2(NRXN1):c.410G>T (p.Trp137Leu) rs745894097
NM_001330078.2(NRXN1):c.4132A>G (p.Thr1378Ala)
NM_001330078.2(NRXN1):c.4241G>C (p.Arg1414Thr)
NM_001330078.2(NRXN1):c.4274G>A (p.Arg1425Gln) rs201559515
NM_001330078.2(NRXN1):c.436G>A (p.Asp146Asn)
NM_001330078.2(NRXN1):c.4416C>A (p.Ile1472=)
NM_001330078.2(NRXN1):c.476C>G (p.Pro159Arg) rs373070672
NM_001330078.2(NRXN1):c.51G>T (p.Ser17=) rs200631737
NM_001330078.2(NRXN1):c.588C>T (p.Pro196=) rs201644834
NM_001330078.2(NRXN1):c.589G>C (p.Val197Leu) rs369183287
NM_001330078.2(NRXN1):c.615C>A (p.Asp205Glu)
NM_001330078.2(NRXN1):c.616G>C (p.Asp206His)
NM_001330078.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup) rs774230140
NM_001330078.2(NRXN1):c.705C>G (p.Ser235=)
NM_001330078.2(NRXN1):c.753C>T (p.Arg251=) rs770481343
NM_001330078.2(NRXN1):c.772+1072T>C
NM_001330078.2(NRXN1):c.779A>C (p.Asn260Thr) rs779434583
NM_001330078.2(NRXN1):c.919G>A (p.Glu307Lys) rs757917920
NM_138735.4(NRXN1):c.49GCC[12] (p.Gly17[12]) rs750165040
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11]) rs750165040
NM_138735.4(NRXN1):c.49GGC[7] (p.Gly17[7]) rs750165040
NM_138735.4(NRXN1):c.49[5] (p.Gly17[5]) rs750165040
NM_138735.4:(NRXN1):c.49GGC[13] (p.Gly17[13]) rs750165040

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