ClinVar Miner

List of variants reported as not provided for Complex neurodevelopmental disorder

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ClinVar version:
Total variants: 180
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr) rs1801475 0.59301
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974 0.00220
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366 0.00095
NM_172107.4(KCNQ2):c.2266G>A (p.Gly756Ser) rs200909197 0.00034
NM_001040142.2(SCN2A):c.82C>T (p.Arg28Cys) rs200884216 0.00025
NM_001040142.2(SCN2A):c.1712G>A (p.Arg571His) rs138138150 0.00013
NM_172107.4(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184 0.00013
NM_172107.4(KCNQ2):c.2252C>T (p.Ser751Leu) rs774002673 0.00011
NM_172107.4(KCNQ2):c.2560C>T (p.Arg854Cys) rs373536274 0.00009
NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser) rs756609768 0.00006
NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp) rs121917748 0.00003
NM_172107.4(KCNQ2):c.1123C>G (p.Gln375Glu) rs756360226 0.00003
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483 0.00002
NM_172107.4(KCNQ2):c.2312C>T (p.Thr771Ile) rs759258191 0.00002
NM_172107.4(KCNQ2):c.2570C>T (p.Thr857Ile) rs753368036 0.00002
NM_001040142.2(SCN2A):c.2695G>A (p.Gly899Ser) rs796053120 0.00001
NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu) rs752579642 0.00001
NM_172107.4(KCNQ2):c.128C>T (p.Ala43Val) rs749554385 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_172107.4(KCNQ2):c.1810C>T (p.Arg604Cys) rs780942181 0.00001
NM_172107.4(KCNQ2):c.1988A>G (p.Glu663Gly) rs758747437 0.00001
NM_172107.4(KCNQ2):c.2209G>A (p.Gly737Ser) rs755013341 0.00001
NM_172107.4(KCNQ2):c.2279G>A (p.Arg760His) rs758530960 0.00001
NM_172107.4(KCNQ2):c.343A>C (p.Ile115Leu) rs752331818 0.00001
NM_172107.4(KCNQ2):c.712A>G (p.Ile238Val) rs747050726 0.00001
NM_001040142.2(SCN2A):c.1136G>A (p.Arg379His) rs2105255398
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu) rs796053180
NM_001040142.2(SCN2A):c.1280C>A (p.Ala427Asp) rs587780448
NM_001040142.2(SCN2A):c.1289A>C (p.Glu430Ala) rs796053183
NM_001040142.2(SCN2A):c.2318C>T (p.Thr773Ile) rs2467962040
NM_001040142.2(SCN2A):c.2447A>T (p.Tyr816Phe) rs2105314804
NM_001040142.2(SCN2A):c.245A>G (p.Asp82Gly) rs2467839067
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001040142.2(SCN2A):c.2635G>A (p.Gly879Arg) rs796053115
NM_001040142.2(SCN2A):c.2638G>T (p.Ala880Ser) rs1574641522
NM_001040142.2(SCN2A):c.2645G>A (p.Gly882Glu) rs1553579305
NM_001040142.2(SCN2A):c.2722A>G (p.Lys908Glu) rs796053122
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His) rs1553579488
NM_001040142.2(SCN2A):c.2932T>C (p.Phe978Leu) rs1700068946
NM_001040142.2(SCN2A):c.2990A>G (p.Asp997Gly) rs1057523786
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.3149A>T (p.Asp1050Val) rs1700079624
NM_001040142.2(SCN2A):c.34G>A (p.Asp12Asn) rs1696475965
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys) rs387906684
NM_001040142.2(SCN2A):c.3778A>C (p.Lys1260Gln) rs1553591813
NM_001040142.2(SCN2A):c.3778A>G (p.Lys1260Glu) rs1553591813
NM_001040142.2(SCN2A):c.3935G>C (p.Arg1312Thr) rs867663974
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln) rs121917753
NM_001040142.2(SCN2A):c.3956G>T (p.Arg1319Leu) rs121917753
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe) rs121917749
NM_001040142.2(SCN2A):c.4007C>A (p.Ser1336Tyr) rs2468102153
NM_001040142.2(SCN2A):c.4015A>G (p.Asn1339Asp) rs2105373027
NM_001040142.2(SCN2A):c.4025T>C (p.Leu1342Pro) rs796053134
NM_001040142.2(SCN2A):c.4156T>C (p.Cys1386Arg) rs794727364
NM_001040142.2(SCN2A):c.4259C>T (p.Thr1420Met) rs1382026643
NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu) rs796053137
NM_001040142.2(SCN2A):c.4419A>G (p.Ile1473Met) rs387906685
NM_001040142.2(SCN2A):c.4436A>C (p.Gln1479Pro) rs2468126722
NM_001040142.2(SCN2A):c.4610T>C (p.Ile1537Thr) rs1553463038
NM_001040142.2(SCN2A):c.4614G>C (p.Met1538Ile) rs1553463042
NM_001040142.2(SCN2A):c.4687C>G (p.Leu1563Val) rs121917750
NM_001040142.2(SCN2A):c.4712T>C (p.Ile1571Thr) rs2105398463
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys) rs1553463119
NM_001040142.2(SCN2A):c.4791T>A (p.Phe1597Leu) rs2468150168
NM_001040142.2(SCN2A):c.4864C>T (p.Pro1622Ser) rs2468157284
NM_001040142.2(SCN2A):c.4868C>A (p.Thr1623Asn) rs1702001950
NM_001040142.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_001040142.2(SCN2A):c.4972C>T (p.Pro1658Ser) rs1702009188
NM_001040142.2(SCN2A):c.5274T>G (p.Ser1758Arg) rs1553463586
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr) rs796053162
NM_001040142.2(SCN2A):c.5339G>T (p.Ser1780Ile) rs796053163
NM_001040142.2(SCN2A):c.5408A>G (p.Glu1803Gly) rs2468159089
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001040142.2(SCN2A):c.5638G>A (p.Glu1880Lys) rs1553463772
NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly) rs796053166
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001040142.2(SCN2A):c.5645G>T (p.Arg1882Leu) rs794727444
NM_001040142.2(SCN2A):c.623T>A (p.Val208Glu) rs2467886890
NM_001040142.2(SCN2A):c.632G>A (p.Gly211Asp) rs1697311700
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln) rs121917752
NM_001040142.2(SCN2A):c.707C>G (p.Thr236Ser) rs2105247122
NM_001040142.2(SCN2A):c.754A>G (p.Met252Val) rs387906687
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) rs1057520413
NM_001040142.2(SCN2A):c.787G>A (p.Ala263Thr) rs1697364931
NM_001148.6(ANK2):c.10756+1G>T rs2506160493
NM_001330260.2(SCN8A):c.1122C>G (p.Asn374Lys) rs2540179223
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile) rs797045013
NM_001330260.2(SCN8A):c.2464G>A (p.Gly822Arg) rs1555225498
NM_001330260.2(SCN8A):c.2519T>C (p.Leu840Pro) rs878854974
NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser) rs879255700
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_001330260.2(SCN8A):c.2890G>C (p.Gly964Arg) rs1057521662
NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys) rs876657399
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val) rs879255704
NM_001330260.2(SCN8A):c.3991C>G (p.Leu1331Val) rs397514738
NM_001330260.2(SCN8A):c.4079C>A (p.Thr1360Asn) rs2138904306
NM_001330260.2(SCN8A):c.4079_4080delinsGG (p.Thr1360Arg) rs2540302170
NM_001330260.2(SCN8A):c.417G>C (p.Met139Ile) rs1565886685
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) rs879255652
NM_001330260.2(SCN8A):c.4472C>T (p.Ala1491Val) rs796053220
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_001330260.2(SCN8A):c.4859G>T (p.Arg1620Leu) rs869312966
NM_001330260.2(SCN8A):c.4865C>A (p.Ala1622Asp) rs1555230924
NM_001330260.2(SCN8A):c.4912C>T (p.Arg1638Cys) rs1938703307
NM_001330260.2(SCN8A):c.4961T>A (p.Ile1654Asn) rs2540333905
NM_001330260.2(SCN8A):c.5156C>G (p.Pro1719Arg) rs1565934070
NM_001330260.2(SCN8A):c.5273T>C (p.Val1758Ala) rs2540334607
NM_001330260.2(SCN8A):c.5280G>C (p.Met1760Ile) rs1555231013
NM_001330260.2(SCN8A):c.5302A>G (p.Asn1768Asp) rs202151337
NM_001330260.2(SCN8A):c.5359A>C (p.Thr1787Pro) rs2540334912
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) rs796053228
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln) rs796053229
NM_001330260.2(SCN8A):c.5615G>T (p.Arg1872Leu) rs796053229
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001330260.2(SCN8A):c.805G>A (p.Gly269Arg) rs1555218644
NM_001378120.1(MBD5):c.1363G>A (p.Ala455Thr) rs2105632032
NM_014191.4(SCN8A):c.667_668delinsCA (p.Arg223Gln) rs2540158691
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1700T>A (p.Val567Asp) rs1131691518
NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val) rs1057516123
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro) rs796052656
NM_172107.4(KCNQ2):c.1764A>T (p.Arg588Ser) rs118192237
NM_172107.4(KCNQ2):c.1910T>G (p.Leu637Arg) rs118192240
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del) rs758334927
NM_172107.4(KCNQ2):c.2377G>C (p.Val793Leu) rs377227909
NM_172107.4(KCNQ2):c.242T>C (p.Leu81Pro) rs2145921196
NM_172107.4(KCNQ2):c.312C>G (p.Phe104Leu) rs771809196
NM_172107.4(KCNQ2):c.338C>T (p.Ser113Phe) rs796052616
NM_172107.4(KCNQ2):c.388G>A (p.Glu130Lys) rs864321710
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp) rs1555873985
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.578C>A (p.Ala193Asp) rs796052619
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val) rs118192199
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.4(KCNQ2):c.608T>C (p.Leu203Pro) rs1057516086
NM_172107.4(KCNQ2):c.612G>T (p.Gln204His) rs796052625
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln) rs118192200
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.4(KCNQ2):c.634G>T (p.Asp212Tyr) rs2516502770
NM_172107.4(KCNQ2):c.635A>G (p.Asp212Gly) rs118192202
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.4(KCNQ2):c.682C>T (p.His228Tyr) rs1555873665
NM_172107.4(KCNQ2):c.683A>G (p.His228Arg) rs2081358611
NM_172107.4(KCNQ2):c.684C>A (p.His228Gln) rs118192204
NM_172107.4(KCNQ2):c.727C>T (p.Leu243Phe) rs118192205
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.4(KCNQ2):c.826A>C (p.Thr276Pro) rs2516420994
NM_172107.4(KCNQ2):c.827C>T (p.Thr276Ile) rs1057516095
NM_172107.4(KCNQ2):c.830C>T (p.Thr277Ile) rs1600755607
NM_172107.4(KCNQ2):c.832A>G (p.Ile278Val) rs780872303
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_172107.4(KCNQ2):c.835G>T (p.Gly279Cys) rs1057516096
NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp) rs2145719551
NM_172107.4(KCNQ2):c.838T>C (p.Tyr280His) rs2081102604
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_172107.4(KCNQ2):c.841G>T (p.Gly281Trp) rs794727813
NM_172107.4(KCNQ2):c.844G>C (p.Asp282His) rs796052636
NM_172107.4(KCNQ2):c.846C>A (p.Asp282Glu) rs2516420288
NM_172107.4(KCNQ2):c.850T>A (p.Tyr284Asn) rs864321706
NM_172107.4(KCNQ2):c.850T>C (p.Tyr284His) rs864321706
NM_172107.4(KCNQ2):c.850T>G (p.Tyr284Asp) rs864321706
NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys) rs28939683
NM_172107.4(KCNQ2):c.871A>G (p.Arg291Gly) rs2516419580
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro) rs1060500602
NM_172107.4(KCNQ2):c.877C>T (p.Leu293Phe) rs2081099943
NM_172107.4(KCNQ2):c.881C>G (p.Ala294Gly) rs118192211
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val) rs118192211
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390
NM_172107.4(KCNQ2):c.916G>C (p.Ala306Pro) rs74315390
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp) rs118192215
NM_172107.4(KCNQ2):c.998G>A (p.Arg333Gln) rs118192216

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