ClinVar Miner

List of variants studied for Pitt-Hopkins-like syndrome 2 by Illumina Laboratory Services, Illumina

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Minimum conflict level:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_001330078.2(NRXN1):c.-281T>C rs35228545 0.23029
NM_001330078.2(NRXN1):c.-421A>C rs67661616 0.22388
NM_001330078.2(NRXN1):c.*1911G>T rs11885824 0.20346
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=) rs1045874 0.17452
NM_001330078.2(NRXN1):c.-951T>C rs2287235 0.17294
NM_001330078.2(NRXN1):c.*110G>A rs1045881 0.14719
NM_001330078.2(NRXN1):c.*1327C>G rs12998798 0.14393
NM_001330078.2(NRXN1):c.-563G>C rs62143025 0.07837
NM_001330078.2(NRXN1):c.-602G>A rs62143026 0.07832
NM_001330078.2(NRXN1):c.-883T>C rs10188340 0.03596
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298 0.01844
NM_001330078.2(NRXN1):c.*1692T>C rs77838429 0.01480
NM_001330078.2(NRXN1):c.4068G>A (p.Thr1356=) rs74714098 0.01437
NM_001330078.2(NRXN1):c.*1539C>G rs112108943 0.01263
NM_001330078.2(NRXN1):c.*2511G>C rs148938313 0.01190
NM_001330078.2(NRXN1):c.*2878G>A rs146778534 0.01088
NM_001330078.2(NRXN1):c.*1365A>G rs147121881 0.01048
NM_001330078.2(NRXN1):c.772+1140G>A rs61658382 0.00837
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=) rs80094872 0.00737
NM_001135659.2(NRXN1):c.-1270A>C rs200176717 0.00614
NM_001330078.2(NRXN1):c.*2372G>A rs116370948 0.00580
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.3933A>G (p.Ala1311=) rs79970751 0.00503
NM_001330078.2(NRXN1):c.-209A>G rs112715587 0.00460
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732 0.00458
NM_001330078.2(NRXN1):c.*540T>A rs74421750 0.00411
NM_001135659.2(NRXN1):c.-1273G>A rs186103615 0.00373
NM_001330078.2(NRXN1):c.*573A>C rs184870922 0.00349
NM_001330078.2(NRXN1):c.-193C>T rs186097623 0.00340
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316 0.00323
NM_001135659.2(NRXN1):c.-1394G>T rs190774311 0.00292
NM_001330078.2(NRXN1):c.-1011G>A rs113142002 0.00278
NM_001330078.2(NRXN1):c.*98A>G rs201147127 0.00252
NM_001135659.2(NRXN1):c.-1451T>C rs72828367 0.00240
NM_001330078.2(NRXN1):c.*2835T>C rs553997030 0.00239
NM_001330078.2(NRXN1):c.*2277G>A rs187875122 0.00210
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) rs113380721 0.00191
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237 0.00166
NM_001330078.2(NRXN1):c.*1583T>C rs192862104 0.00153
NM_001330078.2(NRXN1):c.772+1078A>G rs144049982 0.00153
NM_001330078.2(NRXN1):c.-557C>T rs190900829 0.00145
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.*2377T>C rs543797695 0.00134
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642 0.00109
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) rs55923848 0.00109
NM_001330078.2(NRXN1):c.*620A>T rs202136352 0.00102
NM_001330078.2(NRXN1):c.-34C>A rs200335720 0.00096
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) rs143495349 0.00096
NM_001330078.2(NRXN1):c.-922+7A>C rs200115353 0.00081
NM_001330078.2(NRXN1):c.*2025T>A rs532784340 0.00078
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504 0.00074
NM_001330078.2(NRXN1):c.-232T>C rs200988069 0.00073
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.-995T>C rs200865985 0.00061
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=) rs55640811 0.00059
NM_001330078.2(NRXN1):c.*3123C>T rs531095026 0.00058
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684 0.00051
NM_001330078.2(NRXN1):c.*2222A>G rs551566143 0.00047
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00044
NM_001330078.2(NRXN1):c.*2285T>A rs761936209 0.00042
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=) rs112536447 0.00035
NM_001330078.2(NRXN1):c.-371A>C rs543794636 0.00025
NM_001330078.2(NRXN1):c.-465T>C rs200410983 0.00022
NM_001330078.2(NRXN1):c.*2514A>G rs746884216 0.00019
NM_001330078.2(NRXN1):c.*319T>C rs201147530 0.00019
NM_001330078.2(NRXN1):c.-747C>G rs199974519 0.00016
NM_001135659.2(NRXN1):c.-1356C>T rs201177933 0.00015
NM_001330078.2(NRXN1):c.*232G>A rs202048793 0.00015
NM_001330078.2(NRXN1):c.-813A>G rs201740093 0.00013
NM_001330078.2(NRXN1):c.*2766A>G rs886056155 0.00011
NM_001330078.2(NRXN1):c.3489C>T (p.Ala1163=) rs147580960 0.00011
NM_001330078.2(NRXN1):c.*1389T>A rs201995675 0.00010
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=) rs201886024 0.00010
NM_001330078.2(NRXN1):c.-224G>A rs201347407 0.00009
NM_001330078.2(NRXN1):c.*1842A>C rs562364287 0.00008
NM_001330078.2(NRXN1):c.*3186A>C rs979589555 0.00008
NM_001330078.2(NRXN1):c.3364+9C>T rs200767650 0.00008
NM_001330078.2(NRXN1):c.*1090G>A rs199680726 0.00006
NM_001330078.2(NRXN1):c.-1057C>G rs886056175 0.00006
NM_001330078.2(NRXN1):c.-217C>G rs201073462 0.00006
NM_001330078.2(NRXN1):c.2253A>G (p.Ala751=) rs199648817 0.00006
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520 0.00006
NM_001330078.2(NRXN1):c.3532C>A (p.Leu1178Ile) rs201442938 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.4248G>A (p.Pro1416=) rs151195816 0.00006
NM_001330078.2(NRXN1):c.3219C>T (p.Asn1073=) rs563089155 0.00005
NM_001330078.2(NRXN1):c.*1348C>G rs918304622 0.00004
NM_001330078.2(NRXN1):c.*582G>C rs201670028 0.00004
NM_001330078.2(NRXN1):c.-154A>G rs576870622 0.00004
NM_001330078.2(NRXN1):c.1857A>G (p.Pro619=) rs1324701043 0.00004
NM_001330078.2(NRXN1):c.3384T>C (p.Phe1128=) rs751894635 0.00004
NM_001330078.2(NRXN1):c.4236C>T (p.Gly1412=) rs587781101 0.00004
NM_001330078.2(NRXN1):c.492C>T (p.Ala164=) rs201180707 0.00004
NM_001330078.2(NRXN1):c.524G>A (p.Arg175Lys) rs201518597 0.00004
NM_001330078.2(NRXN1):c.772+1032G>A rs771759988 0.00004
NM_001330078.2(NRXN1):c.811G>A (p.Gly271Ser) rs368240967 0.00004
NM_001330078.2(NRXN1):c.*2286C>A rs886056159 0.00003
NM_001330078.2(NRXN1):c.*2298C>G rs993583276 0.00003
NM_001330078.2(NRXN1):c.*2535C>T rs886056156 0.00003
NM_001330078.2(NRXN1):c.*435T>C rs200957137 0.00003
NM_001330078.2(NRXN1):c.315C>T (p.Ala105=) rs767271650 0.00003
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) rs201481698 0.00003
NM_001330078.2(NRXN1):c.*1201A>T rs201082948 0.00002
NM_001330078.2(NRXN1):c.*12T>G rs200806269 0.00002
NM_001330078.2(NRXN1):c.-644A>G rs199722674 0.00002
NM_001330078.2(NRXN1):c.503A>G (p.Lys168Arg) rs200625614 0.00002
NM_001135659.2(NRXN1):c.-1310G>C rs199990648 0.00001
NM_001135659.2(NRXN1):c.-1373C>A rs886056177 0.00001
NM_001135659.2(NRXN1):c.-1395G>A rs886056179 0.00001
NM_001330078.2(NRXN1):c.*2116C>A rs1255015018 0.00001
NM_001330078.2(NRXN1):c.*527A>G rs1668179617 0.00001
NM_001330078.2(NRXN1):c.*793C>T rs199734969 0.00001
NM_001330078.2(NRXN1):c.1270G>A (p.Asp424Asn) rs1156480841 0.00001
NM_001330078.2(NRXN1):c.1546C>A (p.Leu516Ile) rs781442387 0.00001
NM_001330078.2(NRXN1):c.1760-13C>G rs886056171 0.00001
NM_001330078.2(NRXN1):c.2092T>C (p.Tyr698His) rs1351258948 0.00001
NM_001330078.2(NRXN1):c.2120A>C (p.Tyr707Ser) rs752073539 0.00001
NM_001330078.2(NRXN1):c.2698A>C (p.Arg900=) rs574531814 0.00001
NM_001330078.2(NRXN1):c.3012G>A (p.Lys1004=) rs201118246 0.00001
NM_001330078.2(NRXN1):c.3237A>G (p.Gly1079=) rs886056170 0.00001
NM_001330078.2(NRXN1):c.521T>C (p.Val174Ala) rs545577149 0.00001
NM_001330078.2(NRXN1):c.587C>T (p.Pro196Leu) rs199836119 0.00001
NM_001330078.2(NRXN1):c.670G>A (p.Glu224Lys) rs202242910 0.00001
NM_001330078.2(NRXN1):c.752G>A (p.Arg251His) rs780954241 0.00001
NM_001135659.2(NRXN1):c.-1103T>C rs199802558
NM_001135659.2(NRXN1):c.-1122C>T rs199620396
NM_001135659.2(NRXN1):c.-1167C>T rs1280627386
NM_001135659.2(NRXN1):c.-1219C>T rs200251205
NM_001135659.2(NRXN1):c.-1263G>C rs199614038
NM_001135659.2(NRXN1):c.-1334C>G rs201606022
NM_001135659.2(NRXN1):c.-1381G>A rs886056178
NM_001135659.2(NRXN1):c.-1455C>T rs201544418
NM_001330078.2(NRXN1):c.*1019G>A rs886056163
NM_001330078.2(NRXN1):c.*1195A>G rs200452275
NM_001330078.2(NRXN1):c.*1318A>C rs1668024083
NM_001330078.2(NRXN1):c.*1524T>G rs201970726
NM_001330078.2(NRXN1):c.*2105A>C rs112364713
NM_001330078.2(NRXN1):c.*2373G>A rs886056158
NM_001330078.2(NRXN1):c.*2386A>G rs1667852408
NM_001330078.2(NRXN1):c.*2629A>C rs533799399
NM_001330078.2(NRXN1):c.*2745G>C rs1667790156
NM_001330078.2(NRXN1):c.*2787A>G rs1667782473
NM_001330078.2(NRXN1):c.*3204C>T rs1667722342
NM_001330078.2(NRXN1):c.*3278T>G rs886056154
NM_001330078.2(NRXN1):c.*3346T>A rs541005670
NM_001330078.2(NRXN1):c.*381C>G rs199761593
NM_001330078.2(NRXN1):c.*383A>G rs886056168
NM_001330078.2(NRXN1):c.*434A>G rs201997298
NM_001330078.2(NRXN1):c.*803C>G rs199702096
NM_001330078.2(NRXN1):c.*814G>A rs886056165
NM_001330078.2(NRXN1):c.-1039C>T rs201743429
NM_001330078.2(NRXN1):c.-133G>A rs1670968947
NM_001330078.2(NRXN1):c.-282G>A rs886056173
NM_001330078.2(NRXN1):c.-333A>G rs1671011211
NM_001330078.2(NRXN1):c.-344A>C rs1671011609
NM_001330078.2(NRXN1):c.-422C>T rs886056174
NM_001330078.2(NRXN1):c.-453T>C rs201518531
NM_001330078.2(NRXN1):c.-798G>A rs200985361
NM_001330078.2(NRXN1):c.108C>G (p.Ala36=) rs199871750
NM_001330078.2(NRXN1):c.1163C>T (p.Thr388Ile) rs886056172
NM_001330078.2(NRXN1):c.1179G>C (p.Gly393=) rs200528030
NM_001330078.2(NRXN1):c.1418G>A (p.Cys473Tyr) rs1667739360
NM_001330078.2(NRXN1):c.2013C>T (p.Ser671=) rs1359837458
NM_001330078.2(NRXN1):c.2507C>T (p.Ala836Val) rs199557987
NM_001330078.2(NRXN1):c.3139G>C (p.Glu1047Gln) rs1343492105
NM_001330078.2(NRXN1):c.3552G>C (p.Gln1184His) rs886056169
NM_001330078.2(NRXN1):c.3646C>T (p.Arg1216Cys) rs199888301
NM_001330078.2(NRXN1):c.543G>A (p.Lys181=) rs1670775186
NM_001330078.2(NRXN1):c.644G>A (p.Ser215Asn) rs1670746278
NM_001330078.2(NRXN1):c.772+1070G>A rs1442386532

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