ClinVar Miner

List of variants studied for Pitt-Hopkins-like syndrome by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 328
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_50149062)_(50170949_?)del
NC_000002.11:g.(?_50149062)_(50282202_?)del
NC_000002.11:g.(?_50280389)_(50282202_?)del
NC_000002.11:g.(?_50573809)_(50850773_?)del
NC_000002.11:g.(?_50692560)_(50699629_?)del
NC_000002.11:g.(?_50692560)_(50850773_?)del
NC_000002.11:g.(?_50692560)_(51259192_?)del
NC_000002.11:g.(?_50755743)_(50780183_?)del
NC_000002.11:g.(?_50755743)_(50850773_?)del
NC_000002.11:g.(?_50765371)_(50780183_?)del
NC_000002.11:g.(?_51148987)_(51153113_?)del
NC_000002.11:g.(?_51148987)_(51259192_?)del
NC_000002.11:g.(?_51253489)_(51259192_?)del
NC_000007.13:g.(?_145813093)_(145814085_?)del
NC_000007.13:g.(?_145813093)_(146537016_?)dup
NC_000007.13:g.(?_146471343)_(146471493_?)del
NC_000007.13:g.(?_146471363)_(146471473_?)del
NC_000007.13:g.(?_146740979)_(146741166_?)del
NC_000007.13:g.(?_146829317)_(146829621_?)del
NC_000007.13:g.(?_146997233)_(147092872_?)del
NC_000007.13:g.(?_147259210)_(147259369_?)dup
NC_000007.13:g.(?_147600637)_(147844821_?)dup
NC_000007.13:g.(?_148106463)_(148106583_?)del
NM_001330078.2(NRXN1):c.1059A>C (p.Ala353=) rs200259338
NM_001330078.2(NRXN1):c.105C>T (p.Gly35=) rs55640811
NM_001330078.2(NRXN1):c.1135-8C>T rs1430859209
NM_001330078.2(NRXN1):c.113G>A (p.Gly38Asp) rs1553517468
NM_001330078.2(NRXN1):c.11C>T (p.Ala4Val)
NM_001330078.2(NRXN1):c.1221G>A (p.Met407Ile)
NM_001330078.2(NRXN1):c.1269C>T (p.Ala423=) rs753264637
NM_001330078.2(NRXN1):c.1382C>T (p.Pro461Leu) rs530674644
NM_001330078.2(NRXN1):c.1424A>G (p.Asn475Ser)
NM_001330078.2(NRXN1):c.150C>T (p.Cys50=) rs1057518563
NM_001330078.2(NRXN1):c.1551C>G (p.Ile517Met) rs1553778339
NM_001330078.2(NRXN1):c.1566C>T (p.Gly522=) rs199701804
NM_001330078.2(NRXN1):c.1593G>C (p.Lys531Asn)
NM_001330078.2(NRXN1):c.1647C>A (p.His549Gln) rs201152575
NM_001330078.2(NRXN1):c.1679C>A (p.Thr560Asn) rs200332295
NM_001330078.2(NRXN1):c.1778C>T (p.Thr593Met) rs201530175
NM_001330078.2(NRXN1):c.1786A>T (p.Thr596Ser) rs1060503176
NM_001330078.2(NRXN1):c.1796C>G (p.Thr599Ser) rs1558902953
NM_001330078.2(NRXN1):c.1800T>C (p.Ala600=) rs1553760251
NM_001330078.2(NRXN1):c.190C>A (p.Arg64Ser) rs201566733
NM_001330078.2(NRXN1):c.1913A>G (p.Tyr638Cys) rs727504051
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val) rs200074974
NM_001330078.2(NRXN1):c.1969C>T (p.Arg657Trp) rs200844126
NM_001330078.2(NRXN1):c.1978G>A (p.Ala660Thr) rs199939303
NM_001330078.2(NRXN1):c.1996G>A (p.Ala666Thr) rs201731350
NM_001330078.2(NRXN1):c.2008C>G (p.Pro670Ala) rs762326241
NM_001330078.2(NRXN1):c.202C>G (p.Leu68Val)
NM_001330078.2(NRXN1):c.2036C>T (p.Pro679Leu) rs201735573
NM_001330078.2(NRXN1):c.20A>T (p.Gln7Leu) rs1558617775
NM_001330078.2(NRXN1):c.2110G>A (p.Gly704Arg) rs757547387
NM_001330078.2(NRXN1):c.2132C>T (p.Ser711Phe) rs1558901426
NM_001330078.2(NRXN1):c.2171G>C (p.Ser724Thr) rs1558890325
NM_001330078.2(NRXN1):c.2190G>T (p.Gln730His) rs199978276
NM_001330078.2(NRXN1):c.2253A>G (p.Ala751=)
NM_001330078.2(NRXN1):c.2261T>C (p.Ile754Thr) rs1060503178
NM_001330078.2(NRXN1):c.2268G>A (p.Met756Ile)
NM_001330078.2(NRXN1):c.2323C>T (p.Arg775Cys) rs201387857
NM_001330078.2(NRXN1):c.2346A>C (p.Leu782=) rs764741914
NM_001330078.2(NRXN1):c.2410C>A (p.Leu804Ile)
NM_001330078.2(NRXN1):c.2437C>T (p.Arg813Cys) rs201150987
NM_001330078.2(NRXN1):c.2446C>A (p.Arg816=) rs200325059
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130
NM_001330078.2(NRXN1):c.2476G>A (p.Asp826Asn) rs3185852
NM_001330078.2(NRXN1):c.2483A>C (p.Gln828Pro) rs1060503177
NM_001330078.2(NRXN1):c.2488G>C (p.Ala830Pro) rs759806453
NM_001330078.2(NRXN1):c.2488G>T (p.Ala830Ser)
NM_001330078.2(NRXN1):c.2491A>G (p.Met831Val) rs200018177
NM_001330078.2(NRXN1):c.2492T>C (p.Met831Thr)
NM_001330078.2(NRXN1):c.2497+3A>G rs202074070
NM_001330078.2(NRXN1):c.2497+5A>G
NM_001330078.2(NRXN1):c.2518A>T (p.Thr840Ser)
NM_001330078.2(NRXN1):c.2526G>A (p.Leu842=) rs868353645
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139
NM_001330078.2(NRXN1):c.2564G>A (p.Arg855Gln) rs796052776
NM_001330078.2(NRXN1):c.2597T>C (p.Ile866Thr) rs796052779
NM_001330078.2(NRXN1):c.2658C>T (p.Gly886=)
NM_001330078.2(NRXN1):c.2713G>A (p.Asp905Asn) rs773147215
NM_001330078.2(NRXN1):c.2717C>T (p.Pro906Leu) rs1558833706
NM_001330078.2(NRXN1):c.276C>T (p.Ser92=) rs1553516780
NM_001330078.2(NRXN1):c.2837G>T (p.Ser946Ile)
NM_001330078.2(NRXN1):c.2953G>A (p.Asp985Asn) rs1553698631
NM_001330078.2(NRXN1):c.302C>G (p.Ala101Gly) rs200184823
NM_001330078.2(NRXN1):c.3032C>T (p.Thr1011Met) rs199980022
NM_001330078.2(NRXN1):c.3046G>A (p.Gly1016Arg) rs1553698219
NM_001330078.2(NRXN1):c.3103A>G (p.Thr1035Ala) rs753262049
NM_001330078.2(NRXN1):c.3181C>T (p.Arg1061Trp) rs765632172
NM_001330078.2(NRXN1):c.320C>T (p.Thr107Met) rs368549770
NM_001330078.2(NRXN1):c.3245-10T>G rs1553645389
NM_001330078.2(NRXN1):c.324G>A (p.Pro108=) rs199595253
NM_001330078.2(NRXN1):c.3254C>T (p.Thr1085Ile) rs796052784
NM_001330078.2(NRXN1):c.325G>C (p.Val109Leu) rs779979011
NM_001330078.2(NRXN1):c.3281A>G (p.Asn1094Ser) rs201963074
NM_001330078.2(NRXN1):c.3364C>T (p.Pro1122Ser) rs1442195856
NM_001330078.2(NRXN1):c.3365-3C>T rs1553807559
NM_001330078.2(NRXN1):c.3378T>C (p.Tyr1126=) rs1420076341
NM_001330078.2(NRXN1):c.3407C>T (p.Thr1136Met) rs138261348
NM_001330078.2(NRXN1):c.342G>T (p.Trp114Cys)
NM_001330078.2(NRXN1):c.35T>G (p.Phe12Cys) rs1298445857
NM_001330078.2(NRXN1):c.3612T>A (p.Asn1204Lys) rs757509384
NM_001330078.2(NRXN1):c.3630G>T (p.Gly1210=)
NM_001330078.2(NRXN1):c.3718+7A>G rs752561425
NM_001330078.2(NRXN1):c.3718+8A>G
NM_001330078.2(NRXN1):c.374A>G (p.Asn125Ser) rs770641207
NM_001330078.2(NRXN1):c.3770G>A (p.Arg1257Gln)
NM_001330078.2(NRXN1):c.3775G>C (p.Gly1259Arg) rs1558780258
NM_001330078.2(NRXN1):c.3842C>A (p.Thr1281Asn)
NM_001330078.2(NRXN1):c.3855C>T (p.Gly1285=) rs55776596
NM_001330078.2(NRXN1):c.3869G>T (p.Gly1290Val) rs1558777086
NM_001330078.2(NRXN1):c.3876del (p.Phe1293fs)
NM_001330078.2(NRXN1):c.3919G>A (p.Val1307Ile) rs200044811
NM_001330078.2(NRXN1):c.4029G>A (p.Met1343Ile) rs146100580
NM_001330078.2(NRXN1):c.407A>C (p.Lys136Thr)
NM_001330078.2(NRXN1):c.4088C>A (p.Ala1363Asp) rs781551221
NM_001330078.2(NRXN1):c.4094G>T (p.Arg1365Ile)
NM_001330078.2(NRXN1):c.4220A>G (p.Asn1407Ser) rs146968018
NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=) rs587781101
NM_001330078.2(NRXN1):c.4237G>A (p.Gly1413Ser) rs200604893
NM_001330078.2(NRXN1):c.4247C>G (p.Pro1416Arg) rs199697191
NM_001330078.2(NRXN1):c.4337T>A (p.Leu1446His) rs1293864569
NM_001330078.2(NRXN1):c.4338T>C (p.Leu1446=) rs796052759
NM_001330078.2(NRXN1):c.4352C>T (p.Ala1451Val) rs1060503175
NM_001330078.2(NRXN1):c.435G>T (p.Arg145Ser)
NM_001330078.2(NRXN1):c.446T>C (p.Val149Ala) rs759122060
NM_001330078.2(NRXN1):c.476C>T (p.Pro159Leu) rs373070672
NM_001330078.2(NRXN1):c.479C>T (p.Pro160Leu) rs371517584
NM_001330078.2(NRXN1):c.499C>A (p.Leu167Ile)
NM_001330078.2(NRXN1):c.515C>T (p.Ala172Val) rs199986986
NM_001330078.2(NRXN1):c.518C>T (p.Ser173Leu)
NM_001330078.2(NRXN1):c.536C>T (p.Pro179Leu)
NM_001330078.2(NRXN1):c.546G>A (p.Gly182=) rs1464488808
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504
NM_001330078.2(NRXN1):c.570C>A (p.Asn190Lys) rs564945882
NM_001330078.2(NRXN1):c.587C>T (p.Pro196Leu) rs199836119
NM_001330078.2(NRXN1):c.637G>A (p.Gly213Arg) rs199561088
NM_001330078.2(NRXN1):c.652G>C (p.Glu218Gln) rs756078185
NM_001330078.2(NRXN1):c.65G>A (p.Gly22Asp)
NM_001330078.2(NRXN1):c.664G>A (p.Glu222Lys)
NM_001330078.2(NRXN1):c.665_673dup (p.Glu222_Glu224dup) rs774230140
NM_001330078.2(NRXN1):c.672G>T (p.Glu224Asp) rs1011679353
NM_001330078.2(NRXN1):c.724G>C (p.Val242Leu) rs878854254
NM_001330078.2(NRXN1):c.739C>G (p.Arg247Gly) rs200009780
NM_001330078.2(NRXN1):c.740G>A (p.Arg247Gln)
NM_001330078.2(NRXN1):c.76G>A (p.Glu26Lys)
NM_001330078.2(NRXN1):c.772+1024C>G rs199645252
NM_001330078.2(NRXN1):c.772+1032G>A rs771759988
NM_001330078.2(NRXN1):c.772+1040A>T rs201741449
NM_001330078.2(NRXN1):c.772+1045G>A rs372181288
NM_001330078.2(NRXN1):c.772+1050C>A rs367919055
NM_001330078.2(NRXN1):c.772+1063C>T rs184695687
NM_001330078.2(NRXN1):c.772+1081A>G rs759434607
NM_001330078.2(NRXN1):c.772+1094A>C
NM_001330078.2(NRXN1):c.772+1133T>C rs1476850082
NM_001330078.2(NRXN1):c.781A>G (p.Asn261Asp) rs781179797
NM_001330078.2(NRXN1):c.811G>A (p.Gly271Ser) rs368240967
NM_001330078.2(NRXN1):c.832+2dup rs1344399066
NM_001330078.2(NRXN1):c.832+6A>G rs200841589
NM_001330078.2(NRXN1):c.881A>G (p.Tyr294Cys) rs781054571
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298
NM_014141.6(CNTNAP2):c.1033G>A (p.Val345Ile) rs145832489
NM_014141.6(CNTNAP2):c.1039A>G (p.Ile347Val)
NM_014141.6(CNTNAP2):c.1051G>A (p.Ala351Thr) rs201253086
NM_014141.6(CNTNAP2):c.1078A>G (p.Asn360Asp) rs570190374
NM_014141.6(CNTNAP2):c.1079A>G (p.Asn360Ser) rs794727873
NM_014141.6(CNTNAP2):c.1105G>T (p.Val369Leu) rs368057493
NM_014141.6(CNTNAP2):c.1162G>A (p.Gly388Arg) rs775430816
NM_014141.6(CNTNAP2):c.1165C>T (p.Arg389Trp) rs375172684
NM_014141.6(CNTNAP2):c.1175A>T (p.Gln392Leu) rs1554441866
NM_014141.6(CNTNAP2):c.1249G>T (p.Asp417Tyr) rs147815978
NM_014141.6(CNTNAP2):c.1252A>G (p.Asn418Asp)
NM_014141.6(CNTNAP2):c.1325T>G (p.Met442Arg)
NM_014141.6(CNTNAP2):c.1335C>T (p.Ile445=) rs749205725
NM_014141.6(CNTNAP2):c.1336G>A (p.Asp446Asn)
NM_014141.6(CNTNAP2):c.1347A>C (p.Ser449=) rs1554441906
NM_014141.6(CNTNAP2):c.136G>A (p.Val46Met) rs137924687
NM_014141.6(CNTNAP2):c.1384C>T (p.Arg462Cys)
NM_014141.6(CNTNAP2):c.1385G>A (p.Arg462His) rs774717843
NM_014141.6(CNTNAP2):c.1420A>G (p.Ile474Val) rs765970596
NM_014141.6(CNTNAP2):c.1441G>A (p.Ala481Thr) rs1329353667
NM_014141.6(CNTNAP2):c.1447C>T (p.Arg483Ter) rs752550849
NM_014141.6(CNTNAP2):c.1480G>A (p.Glu494Lys) rs149032771
NM_014141.6(CNTNAP2):c.1531T>A (p.Ser511Thr) rs1554479252
NM_014141.6(CNTNAP2):c.1569C>A (p.Leu523=) rs1374907989
NM_014141.6(CNTNAP2):c.1597T>A (p.Leu533Ile) rs781114080
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys) rs76475298
NM_014141.6(CNTNAP2):c.1622C>T (p.Pro541Leu) rs779761487
NM_014141.6(CNTNAP2):c.1634C>T (p.Ala545Val) rs771772546
NM_014141.6(CNTNAP2):c.1679C>G (p.Pro560Arg) rs1064795313
NM_014141.6(CNTNAP2):c.1687_1688TG[1] (p.Cys563_Glu564delinsTer) rs1554490549
NM_014141.6(CNTNAP2):c.16C>G (p.Arg6Gly)
NM_014141.6(CNTNAP2):c.1700G>C (p.Gly567Ala)
NM_014141.6(CNTNAP2):c.1709C>T (p.Ser570Leu) rs377627481
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128
NM_014141.6(CNTNAP2):c.1745A>G (p.Glu582Gly) rs1554490561
NM_014141.6(CNTNAP2):c.1766C>A (p.Thr589Asn)
NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys) rs141064983
NM_014141.6(CNTNAP2):c.1789C>A (p.Pro597Thr) rs1194751419
NM_014141.6(CNTNAP2):c.181G>A (p.Gly61Ser) rs376929846
NM_014141.6(CNTNAP2):c.1851T>C (p.Asp617=) rs150218065
NM_014141.6(CNTNAP2):c.1858G>A (p.Gly620Arg) rs142980731
NM_014141.6(CNTNAP2):c.1879G>A (p.Val627Ile) rs147447659
NM_014141.6(CNTNAP2):c.1882T>C (p.Tyr628His) rs770030792
NM_014141.6(CNTNAP2):c.1943C>T (p.Thr648Met) rs534215627
NM_014141.6(CNTNAP2):c.1990G>A (p.Val664Ile) rs201934244
NM_014141.6(CNTNAP2):c.1998C>A (p.Ser666Arg) rs759797092
NM_014141.6(CNTNAP2):c.1999G>A (p.Ala667Thr) rs374920791
NM_014141.6(CNTNAP2):c.2043C>T (p.Tyr681=) rs779865638
NM_014141.6(CNTNAP2):c.2046C>T (p.Cys682=) rs201076428
NM_014141.6(CNTNAP2):c.2047G>A (p.Glu683Lys) rs372580822
NM_014141.6(CNTNAP2):c.2055T>C (p.Tyr685=) rs376744436
NM_014141.6(CNTNAP2):c.208G>C (p.Gly70Arg) rs758143699
NM_014141.6(CNTNAP2):c.209-3C>T
NM_014141.6(CNTNAP2):c.2096C>A (p.Pro699Gln) rs764412489
NM_014141.6(CNTNAP2):c.2114C>T (p.Thr705Ile)
NM_014141.6(CNTNAP2):c.2136C>A (p.Asn712Lys) rs187552025
NM_014141.6(CNTNAP2):c.2137G>A (p.Glu713Lys) rs201178948
NM_014141.6(CNTNAP2):c.2147A>G (p.Tyr716Cys) rs760930032
NM_014141.6(CNTNAP2):c.2153G>A (p.Trp718Ter) rs398124268
NM_014141.6(CNTNAP2):c.2171G>C (p.Gly724Ala) rs1554447808
NM_014141.6(CNTNAP2):c.2186C>T (p.Ala729Val) rs758221358
NM_014141.6(CNTNAP2):c.2197G>A (p.Glu733Lys) rs991842796
NM_014141.6(CNTNAP2):c.2201G>A (p.Arg734His) rs1060503570
NM_014141.6(CNTNAP2):c.2239G>A (p.Ala747Thr) rs150530671
NM_014141.6(CNTNAP2):c.2240C>T (p.Ala747Val)
NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr) rs371691712
NM_014141.6(CNTNAP2):c.2255+3G>A
NM_014141.6(CNTNAP2):c.2315T>C (p.Val772Ala) rs370466945
NM_014141.6(CNTNAP2):c.2320G>T (p.Asp774Tyr) rs779885390
NM_014141.6(CNTNAP2):c.2368C>T (p.Arg790Cys) rs200089329
NM_014141.6(CNTNAP2):c.2380G>A (p.Asp794Asn)
NM_014141.6(CNTNAP2):c.2383A>G (p.Arg795Gly) rs1327708224
NM_014141.6(CNTNAP2):c.2436C>T (p.Phe812=) rs1554474094
NM_014141.6(CNTNAP2):c.2440A>G (p.Thr814Ala) rs1060503571
NM_014141.6(CNTNAP2):c.2461G>A (p.Ala821Thr) rs375617946
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs) rs1391540245
NM_014141.6(CNTNAP2):c.2599G>A (p.Val867Ile)
NM_014141.6(CNTNAP2):c.2646G>C (p.Trp882Cys) rs1247068015
NM_014141.6(CNTNAP2):c.2699G>A (p.Arg900Gln)
NM_014141.6(CNTNAP2):c.2716C>T (p.Arg906Cys) rs141617212
NM_014141.6(CNTNAP2):c.274C>T (p.Arg92Trp) rs747286104
NM_014141.6(CNTNAP2):c.275G>A (p.Arg92Gln) rs138924087
NM_014141.6(CNTNAP2):c.2793G>C (p.Gln931His) rs768170033
NM_014141.6(CNTNAP2):c.2928T>C (p.Asn976=) rs765953292
NM_014141.6(CNTNAP2):c.293T>C (p.Ile98Thr) rs146331571
NM_014141.6(CNTNAP2):c.2955C>A (p.His985Gln) rs138257598
NM_014141.6(CNTNAP2):c.2968G>A (p.Asp990Asn) rs1060503572
NM_014141.6(CNTNAP2):c.2985A>G (p.Ala995=) rs768859093
NM_014141.6(CNTNAP2):c.3010+5G>A rs373422045
NM_014141.6(CNTNAP2):c.3010+6G>A rs376708056
NM_014141.6(CNTNAP2):c.3010G>A (p.Asp1004Asn) rs748508785
NM_014141.6(CNTNAP2):c.3061G>A (p.Ala1021Thr)
NM_014141.6(CNTNAP2):c.3076G>A (p.Ala1026Thr) rs796052382
NM_014141.6(CNTNAP2):c.3106G>A (p.Ala1036Thr) rs545175315
NM_014141.6(CNTNAP2):c.3112G>A (p.Asp1038Asn) rs144003410
NM_014141.6(CNTNAP2):c.3115C>G (p.Gln1039Glu) rs372351365
NM_014141.6(CNTNAP2):c.3131C>T (p.Pro1044Leu) rs369724886
NM_014141.6(CNTNAP2):c.3151A>G (p.Ile1051Val) rs373566502
NM_014141.6(CNTNAP2):c.3154C>T (p.Arg1052Cys) rs139930720
NM_014141.6(CNTNAP2):c.3155G>A (p.Arg1052His) rs374739970
NM_014141.6(CNTNAP2):c.3179C>T (p.Ala1060Val) rs369254596
NM_014141.6(CNTNAP2):c.3180G>C (p.Ala1060=) rs372645983
NM_014141.6(CNTNAP2):c.3252C>T (p.Ser1084=) rs893619983
NM_014141.6(CNTNAP2):c.3263G>T (p.Arg1088Leu) rs201827086
NM_014141.6(CNTNAP2):c.3284G>A (p.Arg1095Gln) rs535562015
NM_014141.6(CNTNAP2):c.3292T>C (p.Tyr1098His) rs1484284253
NM_014141.6(CNTNAP2):c.3304G>A (p.Val1102Ile) rs773399465
NM_014141.6(CNTNAP2):c.3317A>G (p.Asn1106Ser) rs1554405605
NM_014141.6(CNTNAP2):c.3355C>T (p.Arg1119Cys) rs367664952
NM_014141.6(CNTNAP2):c.3356G>A (p.Arg1119His)
NM_014141.6(CNTNAP2):c.3379A>G (p.Lys1127Glu) rs1032665509
NM_014141.6(CNTNAP2):c.3388C>T (p.His1130Tyr)
NM_014141.6(CNTNAP2):c.338A>G (p.Tyr113Cys) rs779208613
NM_014141.6(CNTNAP2):c.3417A>G (p.Pro1139=) rs368474520
NM_014141.6(CNTNAP2):c.3431C>A (p.Thr1144Asn) rs775781258
NM_014141.6(CNTNAP2):c.3474A>G (p.Ile1158Met) rs1554409689
NM_014141.6(CNTNAP2):c.3480_3481del (p.Gly1161fs) rs771827120
NM_014141.6(CNTNAP2):c.3517C>A (p.Pro1173Thr) rs772569737
NM_014141.6(CNTNAP2):c.3517C>G (p.Pro1173Ala)
NM_014141.6(CNTNAP2):c.355G>A (p.Asp119Asn) rs777035367
NM_014141.6(CNTNAP2):c.3595G>A (p.Ala1199Thr) rs727503878
NM_014141.6(CNTNAP2):c.3607G>A (p.Val1203Ile) rs745397865
NM_014141.6(CNTNAP2):c.3621C>T (p.Gly1207=) rs1387218532
NM_014141.6(CNTNAP2):c.3661C>G (p.Leu1221Val) rs765217559
NM_014141.6(CNTNAP2):c.3689C>T (p.Pro1230Leu) rs759652826
NM_014141.6(CNTNAP2):c.3738T>C (p.Asn1246=) rs763106283
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521
NM_014141.6(CNTNAP2):c.3775A>G (p.Arg1259Gly)
NM_014141.6(CNTNAP2):c.3797-5G>C rs745770134
NM_014141.6(CNTNAP2):c.37C>T (p.Leu13Phe) rs796052375
NM_014141.6(CNTNAP2):c.3827T>C (p.Leu1276Pro) rs1554432746
NM_014141.6(CNTNAP2):c.3850C>T (p.Arg1284Trp) rs763809167
NM_014141.6(CNTNAP2):c.3851G>A (p.Arg1284Gln) rs751307599
NM_014141.6(CNTNAP2):c.3857T>C (p.Met1286Thr) rs150167891
NM_014141.6(CNTNAP2):c.3862C>A (p.Arg1288Ser)
NM_014141.6(CNTNAP2):c.3862C>T (p.Arg1288Cys) rs138661307
NM_014141.6(CNTNAP2):c.3897G>C (p.Lys1299Asn)
NM_014141.6(CNTNAP2):c.3902C>T (p.Ala1301Val) rs776987592
NM_014141.6(CNTNAP2):c.3925G>A (p.Ala1309Thr) rs530757880
NM_014141.6(CNTNAP2):c.3952T>G (p.Phe1318Val) rs1468031997
NM_014141.6(CNTNAP2):c.3990C>G (p.Leu1330=) rs1057522590
NM_014141.6(CNTNAP2):c.3990C>T (p.Leu1330=) rs1057522590
NM_014141.6(CNTNAP2):c.400T>G (p.Trp134Gly) rs139694086
NM_014141.6(CNTNAP2):c.416A>G (p.Asn139Ser) rs370517200
NM_014141.6(CNTNAP2):c.436G>A (p.Val146Ile) rs781338949
NM_014141.6(CNTNAP2):c.440G>A (p.Arg147Gln) rs1064794785
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His) rs138738227
NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly) rs587780320
NM_014141.6(CNTNAP2):c.511C>T (p.Arg171Cys)
NM_014141.6(CNTNAP2):c.512G>T (p.Arg171Leu) rs368487049
NM_014141.6(CNTNAP2):c.632T>C (p.Val211Ala) rs367652115
NM_014141.6(CNTNAP2):c.636del (p.Ile212fs)
NM_014141.6(CNTNAP2):c.65T>C (p.Leu22Pro) rs768374052
NM_014141.6(CNTNAP2):c.664G>C (p.Glu222Gln) rs532524611
NM_014141.6(CNTNAP2):c.671T>C (p.Val224Ala)
NM_014141.6(CNTNAP2):c.676C>A (p.Leu226Met) rs372345438
NM_014141.6(CNTNAP2):c.707T>G (p.Ile236Ser) rs749945304
NM_014141.6(CNTNAP2):c.755-3C>T rs780336361
NM_014141.6(CNTNAP2):c.777A>G (p.Ile259Met) rs1554440667
NM_014141.6(CNTNAP2):c.847C>T (p.Arg283Cys) rs794727802
NM_014141.6(CNTNAP2):c.857G>A (p.Arg286Gln) rs375721700
NM_014141.6(CNTNAP2):c.860G>T (p.Ser287Ile)
NM_014141.6(CNTNAP2):c.861C>G (p.Ser287Arg) rs1015511874
NM_014141.6(CNTNAP2):c.876G>A (p.Leu292=)
NM_014141.6(CNTNAP2):c.898C>T (p.Arg300Cys) rs577870607
NM_014141.6(CNTNAP2):c.905A>G (p.Asn302Ser) rs1060503569
NM_014141.6(CNTNAP2):c.958C>T (p.Pro320Ser) rs113086771

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