ClinVar Miner

List of variants reported as benign for neonatal period electroclinical syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 308
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HGVS dbSNP gnomAD frequency
NM_032776.3(JMJD1C):c.3984T>A (p.Arg1328=) rs1904294 0.98372
NM_032776.3(JMJD1C):c.168+10T>C rs10761770 0.96023
NM_173354.5(SIK1):c.1844C>T (p.Ala615Val) rs430554 0.85362
NM_004519.4(KCNQ3):c.*4958A>G rs1437824 0.82814
NM_004519.4(KCNQ3):c.*3597G>A rs1025436 0.82601
NM_173354.5(SIK1):c.1848C>T (p.Pro616=) rs430552 0.73160
NM_032776.3(JMJD1C):c.6789C>T (p.Asp2263=) rs3211105 0.66170
NM_032776.3(JMJD1C):c.168+11C>G rs1061259 0.65532
NM_032776.3(JMJD1C):c.1390T>A (p.Ser464Thr) rs10761725 0.62834
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr) rs1801475 0.59301
NM_004171.4(SLC1A2):c.731-8T>C rs2273689 0.55092
NM_004519.4(KCNQ3):c.*3977G>A rs2469628 0.43479
NM_032776.3(JMJD1C):c.7605G>C (p.Glu2535Asp) rs1935 0.42516
NM_004519.4(KCNQ3):c.*3032A>G rs2469626 0.42325
NM_001191061.2(SLC25A22):c.*453C>T rs4963153 0.38209
NM_004519.4(KCNQ3):c.*1754C>T rs977939 0.36854
NM_173354.5(SIK1):c.625-39A>G rs2006112 0.32889
NM_173354.5(SIK1):c.749-45C>G rs657978 0.32441
NM_173354.5(SIK1):c.625-23T>C rs2006191 0.31560
NM_004171.4(SLC1A2):c.1221A>G (p.Val407=) rs1042113 0.26392
NM_004519.4(KCNQ3):c.*6632T>C rs9297840 0.26041
NM_004519.4(KCNQ3):c.*6812A>G rs7815106 0.26027
NM_004519.4(KCNQ3):c.*6282A>T rs10095295 0.25405
NM_004519.4(KCNQ3):c.*6238T>C rs10108362 0.25327
NM_004519.4(KCNQ3):c.*426C>G rs10956640 0.24245
NM_004519.4(KCNQ3):c.*425C>A rs10956641 0.24242
NM_004171.4(SLC1A2):c.603G>A (p.Pro201=) rs752949 0.22188
NM_004171.4(SLC1A2):c.562-36T>C rs3895234 0.22153
NM_004519.4(KCNQ3):c.*3035A>G rs2469627 0.22054
NM_172107.4(KCNQ2):c.388-26G>T rs6062939 0.21189
NM_004519.4(KCNQ3):c.*6340G>A rs2469629 0.21022
NM_004171.4(SLC1A2):c.311-37A>G rs10836370 0.20991
NM_004519.4(KCNQ3):c.*6956A>G rs2469630 0.20752
NM_004519.4(KCNQ3):c.*8148G>A rs1437822 0.20680
NM_004519.4(KCNQ3):c.*5932A>C rs2436130 0.20676
NM_004519.4(KCNQ3):c.*7143A>G rs2436125 0.20673
NM_004519.4(KCNQ3):c.*7221C>T rs2436124 0.20669
NM_004519.4(KCNQ3):c.*7119C>T rs2436126 0.20665
NM_004519.4(KCNQ3):c.*7075A>G rs2436127 0.20581
NM_004519.4(KCNQ3):c.*7033T>C rs2436128 0.20576
NM_004519.4(KCNQ3):c.*6874C>G rs2436129 0.20211
NM_004171.4(SLC1A2):c.157+31C>G rs2273687 0.19605
NM_173354.5(SIK1):c.43G>A (p.Gly15Ser) rs3746951 0.18525
NM_004519.4(KCNQ3):c.1700+29G>A rs2469515 0.16763
NM_004519.4(KCNQ3):c.*5719C>T rs11786417 0.14483
NM_004519.4(KCNQ3):c.*7506C>T rs11785257 0.14469
NM_173354.5(SIK1):c.1246-36T>C rs2838302 0.09992
NM_173354.5(SIK1):c.274-28G>A rs59151119 0.09888
NM_173354.5(SIK1):c.337+35C>G rs57684950 0.09708
NM_001191061.2(SLC25A22):c.234C>T (p.Pro78=) rs80335370 0.09454
NM_173354.5(SIK1):c.156+15T>C rs56796001 0.09264
NM_001191061.2(SLC25A22):c.*906G>A rs118051043 0.08987
NM_004519.4(KCNQ3):c.*2137C>T rs2272679 0.08712
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=) rs1801471 0.07011
NM_004519.4(KCNQ3):c.*4125T>C rs2163608 0.06913
NM_173354.5(SIK1):c.749-49G>A rs117253106 0.06248
NM_001191061.2(SLC25A22):c.448C>G (p.Leu150Val) rs111277421 0.06224
NM_001191061.2(SLC25A22):c.-163-868T>C rs111520133 0.06071
NM_004519.4(KCNQ3):c.*396A>G rs78243592 0.05729
NM_004519.4(KCNQ3):c.1071C>G (p.Leu357=) rs17575754 0.05655
NM_004519.4(KCNQ3):c.*7131G>A rs75865310 0.05438
NM_032776.3(JMJD1C):c.1771A>G (p.Met591Val) rs41274072 0.05413
NM_004519.4(KCNQ3):c.*1050A>C rs76720699 0.05328
NM_004519.4(KCNQ3):c.732T>C (p.Gly244=) rs41272387 0.05313
NM_004519.4(KCNQ3):c.660T>C (p.Asn220=) rs41272389 0.05312
NM_173354.5(SIK1):c.1455C>T (p.Thr485=) rs28510483 0.05232
NM_173354.5(SIK1):c.2174C>T (p.Ala725Val) rs35596465 0.05170
NM_001191061.2(SLC25A22):c.*1153C>T rs17156064 0.04015
NM_001191061.2(SLC25A22):c.561C>T (p.Tyr187=) rs77117049 0.03987
NM_173354.5(SIK1):c.948C>T (p.Gly316=) rs17004546 0.03875
NM_001191061.2(SLC25A22):c.412+10G>T rs113091974 0.03661
NM_032776.3(JMJD1C):c.1547C>G (p.Thr516Ser) rs41274074 0.03270
NM_032776.3(JMJD1C):c.447+7A>C rs73290502 0.02681
NM_001191061.2(SLC25A22):c.-163-881C>T rs115490180 0.02548
NM_004519.4(KCNQ3):c.*7095T>G rs1437823 0.02520
NM_004519.4(KCNQ3):c.*7371T>G rs76268875 0.02511
NM_004519.4(KCNQ3):c.*2166A>G rs35279095 0.02440
NM_004519.4(KCNQ3):c.*1697C>G rs71526238 0.02377
NM_004519.4(KCNQ3):c.*7464C>A rs35604597 0.02371
NM_032776.3(JMJD1C):c.759T>C (p.Gly253=) rs34037273 0.02313
NM_032776.3(JMJD1C):c.7200C>G (p.Asp2400Glu) rs34491125 0.02306
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly) rs2303995 0.02242
NM_004519.4(KCNQ3):c.*1407A>C rs76570743 0.02131
NM_001191061.2(SLC25A22):c.*436C>T rs112476979 0.02124
NM_001191061.2(SLC25A22):c.-141G>A rs79919483 0.01938
NM_004519.4(KCNQ3):c.*2475C>T rs141143602 0.01668
NM_032776.3(JMJD1C):c.3984= (p.Arg1328=) rs1904294 0.01628
NM_173354.5(SIK1):c.1554G>T (p.Ala518=) rs34487963 0.01593
NM_004519.4(KCNQ3):c.*7413G>C rs111267263 0.01573
NM_004519.4(KCNQ3):c.1700+3G>A rs115092422 0.01419
NM_032776.3(JMJD1C):c.814G>A (p.Ala272Thr) rs34798625 0.01383
NM_004519.4(KCNQ3):c.*1383C>T rs146987908 0.01123
NM_004519.4(KCNQ3):c.*4258T>C rs113937538 0.01032
NM_173354.5(SIK1):c.1072C>G (p.Pro358Ala) rs145582574 0.01018
NM_173354.5(SIK1):c.693G>A (p.Thr231=) rs113685366 0.01016
NM_004519.4(KCNQ3):c.1059C>T (p.Ser353=) rs35413925 0.01009
NM_004519.4(KCNQ3):c.*3823G>A rs17651980 0.00951
NM_004519.4(KCNQ3):c.*3957A>G rs16904601 0.00945
NM_004519.4(KCNQ3):c.*5255T>C rs146830560 0.00938
NM_032776.3(JMJD1C):c.6570+3G>A rs76935733 0.00908
NM_032776.3(JMJD1C):c.1379T>C (p.Met460Thr) rs151186255 0.00854
NM_001191061.2(SLC25A22):c.*841A>T rs116673603 0.00811
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) rs35538317 0.00761
NM_001191061.2(SLC25A22):c.*712T>C rs114476401 0.00732
NM_004519.4(KCNQ3):c.*5762G>A rs77343115 0.00723
NM_173354.5(SIK1):c.2087C>T (p.Pro696Leu) rs56386767 0.00709
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081 0.00702
NM_012281.3(KCND2):c.456G>A (p.Ala152=) rs116322872 0.00687
NM_004519.4(KCNQ3):c.*4736G>A rs114070302 0.00623
NM_173354.5(SIK1):c.906C>T (p.Gly302=) rs113379599 0.00615
NM_173354.5(SIK1):c.930T>C (p.Gly310=) rs112660017 0.00609
NM_004519.4(KCNQ3):c.*4817G>A rs76758430 0.00586
NM_173354.5(SIK1):c.1463-7C>T rs142866662 0.00575
NM_004519.4(KCNQ3):c.948C>T (p.Thr316=) rs142144538 0.00564
NM_004519.4(KCNQ3):c.-65C>T rs180674534 0.00507
NM_032776.3(JMJD1C):c.699C>T (p.Val233=) rs74138760 0.00482
NM_004519.4(KCNQ3):c.*5704C>T rs145396746 0.00474
NM_004519.4(KCNQ3):c.*4279C>T rs180880378 0.00457
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_012281.3(KCND2):c.1116-16T>A rs192275893 0.00442
NM_004519.4(KCNQ3):c.*6174A>G rs116373101 0.00433
NM_032776.3(JMJD1C):c.5940G>A (p.Pro1980=) rs34825545 0.00431
NM_004519.4(KCNQ3):c.*3731G>T rs117524261 0.00428
NM_173354.5(SIK1):c.1288C>T (p.Arg430Trp) rs34164089 0.00424
NM_004519.4(KCNQ3):c.*3544A>G rs61190986 0.00393
NM_004519.4(KCNQ3):c.*3701G>A rs576940686 0.00391
NM_004519.4(KCNQ3):c.*5578A>G rs148780224 0.00381
NM_004519.4(KCNQ3):c.*7689A>G rs142621198 0.00377
NM_032776.3(JMJD1C):c.2628T>C (p.Leu876=) rs139078977 0.00356
NM_032776.3(JMJD1C):c.7401+13T>C rs142145484 0.00353
NM_004519.4(KCNQ3):c.2168G>A (p.Gly723Glu) rs142149782 0.00334
NM_032776.3(JMJD1C):c.1392G>A (p.Ser464=) rs142118527 0.00326
NM_004519.4(KCNQ3):c.1236-16C>T rs201168632 0.00301
NM_032776.3(JMJD1C):c.6948G>A (p.Leu2316=) rs79059103 0.00279
NM_032776.3(JMJD1C):c.1682C>G (p.Ser561Cys) rs149889210 0.00274
NM_173354.5(SIK1):c.2072G>A (p.Gly691Asp) rs200810453 0.00249
NM_004519.4(KCNQ3):c.*6199C>T rs183259250 0.00240
NM_004519.4(KCNQ3):c.*2393A>G rs139982273 0.00236
NM_004519.4(KCNQ3):c.*7722T>A rs138128512 0.00213
NM_173354.5(SIK1):c.1470C>T (p.Val490=) rs144693254 0.00188
NM_004519.4(KCNQ3):c.*3303C>A rs571392133 0.00185
NM_004519.4(KCNQ3):c.*4043C>T rs117527951 0.00184
NM_004519.4(KCNQ3):c.*2271T>A rs149825293 0.00182
NM_173354.5(SIK1):c.1463-18G>A rs370691454 0.00179
NM_004519.4(KCNQ3):c.*1937A>G rs144262306 0.00171
NM_004519.4(KCNQ3):c.*3897C>G rs191691741 0.00166
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555 0.00165
NM_004519.4(KCNQ3):c.*2847T>C rs138023368 0.00156
NM_004519.4(KCNQ3):c.*5965T>C rs537622929 0.00150
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) rs145322467 0.00137
NM_004519.4(KCNQ3):c.1917C>T (p.Leu639=) rs78731303 0.00131
NM_004519.4(KCNQ3):c.1568+12A>G rs181790623 0.00128
NM_173354.5(SIK1):c.1119+7G>A rs201075575 0.00128
NM_012281.3(KCND2):c.1473C>T (p.His491=) rs145422660 0.00127
NM_173354.5(SIK1):c.2160G>T (p.Pro720=) rs371001336 0.00125
NM_173354.5(SIK1):c.2227G>A (p.Ala743Thr) rs200534160 0.00121
NM_001191061.2(SLC25A22):c.618G>A (p.Pro206=) rs150544061 0.00118
NM_173354.5(SIK1):c.951G>T (p.Val317=) rs113514102 0.00102
NM_004519.4(KCNQ3):c.*3165G>T rs567074601 0.00091
NM_173354.5(SIK1):c.939G>T (p.Gln313His) rs200357670 0.00090
NM_032776.3(JMJD1C):c.3717T>C (p.Asn1239=) rs751482085 0.00088
NM_004519.4(KCNQ3):c.*1159G>A rs117218884 0.00087
NM_004519.4(KCNQ3):c.*2876C>G rs572963665 0.00085
NM_032776.3(JMJD1C):c.6571-15T>C rs375459573 0.00081
NM_032776.3(JMJD1C):c.1910A>G (p.Lys637Arg) rs117647164 0.00080
NM_012281.3(KCND2):c.1116-11C>A rs189173379 0.00077
NM_173354.5(SIK1):c.624+15C>T rs139467241 0.00077
NM_173354.5(SIK1):c.1077C>T (p.Ala359=) rs149713367 0.00076
NM_173354.5(SIK1):c.1744+10G>A rs376512810 0.00071
NM_173354.5(SIK1):c.2049G>A (p.Pro683=) rs373872652 0.00067
NM_173354.5(SIK1):c.500-21_500-18del rs375258010 0.00060
NM_004519.4(KCNQ3):c.*1582C>T rs140360332 0.00058
NM_032776.3(JMJD1C):c.3951T>C (p.Ser1317=) rs143894691 0.00053
NM_173354.5(SIK1):c.966G>A (p.Thr322=) rs148266853 0.00051
NM_173354.5(SIK1):c.1560C>T (p.Leu520=) rs146485356 0.00045
NM_004519.4(KCNQ3):c.-85C>T rs765522706 0.00043
NM_004519.4(KCNQ3):c.2349G>A (p.Thr783=) rs145063831 0.00043
NM_032776.3(JMJD1C):c.7593G>A (p.Glu2531=) rs186321056 0.00042
NM_173354.5(SIK1):c.1462+11C>T rs373251983 0.00041
NM_032776.3(JMJD1C):c.3178A>G (p.Lys1060Glu) rs149833441 0.00039
NM_004519.4(KCNQ3):c.*2010T>A rs139631143 0.00037
NM_032776.3(JMJD1C):c.3807A>G (p.Glu1269=) rs527526754 0.00036
NM_173354.5(SIK1):c.453G>A (p.Lys151=) rs138750735 0.00035
NM_004519.4(KCNQ3):c.1701-17C>T rs375928058 0.00032
NM_032776.3(JMJD1C):c.6834C>T (p.Tyr2278=) rs140575344 0.00030
NM_004519.4(KCNQ3):c.*5018C>G rs534993423 0.00029
NM_032776.3(JMJD1C):c.18G>A (p.Arg6=) rs200305143 0.00026
NM_173354.5(SIK1):c.1489G>T (p.Ala497Ser) rs35519605 0.00026
NM_173354.5(SIK1):c.546G>T (p.Thr182=) rs146068550 0.00025
NM_032776.3(JMJD1C):c.3288A>G (p.Thr1096=) rs553346839 0.00024
NM_012281.3(KCND2):c.670C>A (p.Arg224=) rs201072665 0.00022
NM_173354.5(SIK1):c.1463-3C>T rs372615326 0.00022
NM_004519.4(KCNQ3):c.2097C>T (p.Phe699=) rs139678098 0.00021
NM_004519.4(KCNQ3):c.834T>C (p.Leu278=) rs769657433 0.00020
NM_012281.3(KCND2):c.801G>A (p.Val267=) rs375854186 0.00019
NM_173354.5(SIK1):c.4G>A (p.Val2Ile) rs376640139 0.00019
NM_173354.5(SIK1):c.1278C>T (p.Ser426=) rs539889673 0.00016
NM_004519.4(KCNQ3):c.*5004G>A rs558732846 0.00015
NM_012281.3(KCND2):c.1278+19G>A rs181115405 0.00014
NM_173354.5(SIK1):c.243G>C (p.Leu81=) rs549478743 0.00012
NM_032776.3(JMJD1C):c.4410T>C (p.Ser1470=) rs118024996 0.00011
NM_032776.3(JMJD1C):c.6624G>A (p.Ala2208=) rs376902848 0.00011
NM_173354.5(SIK1):c.1488G>A (p.Thr496=) rs753580147 0.00011
NM_173354.5(SIK1):c.30C>T (p.Asp10=) rs751254558 0.00011
NM_004519.4(KCNQ3):c.*7214G>A rs150753935 0.00010
NM_032776.3(JMJD1C):c.5271T>C (p.Phe1757=) rs544719834 0.00010
NM_173354.5(SIK1):c.2059G>A (p.Ala687Thr) rs752544370 0.00010
NM_173354.5(SIK1):c.2142G>A (p.Leu714=) rs759724871 0.00010
NM_012281.3(KCND2):c.708C>T (p.Cys236=) rs183473998 0.00009
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser) rs587780369 0.00008
NM_004519.4(KCNQ3):c.*4982A>T rs545252668 0.00007
NM_004519.4(KCNQ3):c.*7130C>T rs546278208 0.00006
NM_012281.3(KCND2):c.1116-18A>T rs368667977 0.00006
NM_032776.3(JMJD1C):c.4359A>G (p.Thr1453=) rs548304608 0.00006
NM_032776.3(JMJD1C):c.5276+15G>T rs375419932 0.00006
NM_173354.5(SIK1):c.2005G>A (p.Ala669Thr) rs753288564 0.00006
NM_173354.5(SIK1):c.854C>T (p.Pro285Leu) rs567695572 0.00006
NM_173354.5(SIK1):c.855G>A (p.Pro285=) rs549052367 0.00006
NM_173354.5(SIK1):c.924G>A (p.Ala308=) rs199738681 0.00006
NM_004519.4(KCNQ3):c.*7504C>G rs532052931 0.00005
NM_012281.3(KCND2):c.1279-4A>G rs530629463 0.00005
NM_001191061.2(SLC25A22):c.*17A>C rs554507285 0.00004
NM_004519.4(KCNQ3):c.*5482A>G rs192695801 0.00004
NM_004519.4(KCNQ3):c.1564G>A (p.Val522Ile) rs143683496 0.00004
NM_004519.4(KCNQ3):c.1665C>T (p.Leu555=) rs143511163 0.00004
NM_004519.4(KCNQ3):c.1568+15G>A rs766512941 0.00003
NM_004519.4(KCNQ3):c.2079G>A (p.Pro693=) rs145204452 0.00003
NM_032776.3(JMJD1C):c.6027G>T (p.Leu2009=) rs567705184 0.00003
NM_173354.5(SIK1):c.1060G>A (p.Ala354Thr) rs753285222 0.00003
NM_173354.5(SIK1):c.1370A>C (p.Glu457Ala) rs377535420 0.00003
NM_173354.5(SIK1):c.1379C>T (p.Thr460Met) rs761262141 0.00003
NM_173354.5(SIK1):c.2014G>A (p.Gly672Ser) rs751934560 0.00003
NM_173354.5(SIK1):c.2112G>A (p.Ser704=) rs773124142 0.00003
NM_173354.5(SIK1):c.2218G>A (p.Ala740Thr) rs760602207 0.00003
NM_173354.5(SIK1):c.2243G>A (p.Arg748His) rs375516507 0.00003
NM_173354.5(SIK1):c.273+8G>T rs370279333 0.00003
NM_004519.4(KCNQ3):c.1707T>C (p.Asp569=) rs748374858 0.00002
NM_004519.4(KCNQ3):c.2071G>A (p.Gly691Ser) rs747379988 0.00002
NM_032776.3(JMJD1C):c.2514G>A (p.Gln838=) rs373568855 0.00002
NM_032776.3(JMJD1C):c.3588A>T (p.Thr1196=) rs568159160 0.00002
NM_032776.3(JMJD1C):c.4137T>C (p.Ser1379=) rs553383426 0.00002
NM_173354.5(SIK1):c.1782G>A (p.Thr594=) rs548640382 0.00002
NM_173354.5(SIK1):c.2045C>T (p.Ala682Val) rs1362078144 0.00002
NM_173354.5(SIK1):c.907G>A (p.Asp303Asn) rs769181075 0.00002
NM_004519.4(KCNQ3):c.*7461G>A rs568659674 0.00001
NM_004519.4(KCNQ3):c.1421C>T (p.Thr474Met) rs757583944 0.00001
NM_032776.3(JMJD1C):c.2349T>G (p.Thr783=) rs755118052 0.00001
NM_173354.5(SIK1):c.1129G>A (p.Glu377Lys) rs1374242563 0.00001
NC_000021.8:g.(?_44836602)_(44837674_?)dup
NC_000021.8:g.(?_44836622)_(44837654_?)dup
NC_000021.8:g.(?_44836622)_(44837664_?)dup
NM_004519.4(KCNQ3):c.*4036G>A rs189307949
NM_004519.4(KCNQ3):c.*4243A>T rs2436131
NM_004519.4(KCNQ3):c.*4746_*4747insACAG rs112550767
NM_004519.4(KCNQ3):c.*4947G>A rs140565364
NM_004519.4(KCNQ3):c.*4947G>T rs140565364
NM_004519.4(KCNQ3):c.*4982del rs35772668
NM_004519.4(KCNQ3):c.*717CA[18] rs35230760
NM_004519.4(KCNQ3):c.-142G>T rs28606540
NM_004519.4(KCNQ3):c.1141-18del rs2130109811
NM_004519.4(KCNQ3):c.1236-20dup rs754643102
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.1884+11del rs749463018
NM_004519.4(KCNQ3):c.1885-5dup rs769845388
NM_004519.4(KCNQ3):c.1958A>G (p.Gln653Arg) rs554833870
NM_004519.4(KCNQ3):c.213C>T (p.Gly71=) rs551914862
NM_004519.4(KCNQ3):c.2262C>T (p.Leu754=) rs555827251
NM_012281.3(KCND2):c.1279-10dup
NM_012281.3(KCND2):c.1616G>T (p.Arg539Leu)
NM_012281.3(KCND2):c.1716-8del rs570695615
NM_012281.3(KCND2):c.1716-8dup
NM_032776.3(JMJD1C):c.1329_1331del (p.His443_Glu444delinsGln) rs141981100
NM_032776.3(JMJD1C):c.168+10_168+11delinsCG rs34353506
NM_032776.3(JMJD1C):c.1949C>T (p.Thr650Ile) rs41274068
NM_032776.3(JMJD1C):c.2695-19dup
NM_032776.3(JMJD1C):c.2695-20TTGTT[4] rs60227922
NM_032776.3(JMJD1C):c.334-9del rs770502308
NM_032776.3(JMJD1C):c.3473_3478del (p.Gly1158_Leu1159del) rs139722368
NM_032776.3(JMJD1C):c.4188G>A (p.Thr1396=)
NM_032776.3(JMJD1C):c.5074+17_5074+21del rs749119959
NM_032776.3(JMJD1C):c.5075-5del rs779803861
NM_032776.3(JMJD1C):c.5492-12dup
NM_032776.3(JMJD1C):c.554-11dup rs758235168
NM_032776.3(JMJD1C):c.554-4del
NM_032776.3(JMJD1C):c.5939C>T (p.Pro1980Leu) rs41274064
NM_032776.3(JMJD1C):c.6292-10del rs544671297
NM_032776.3(JMJD1C):c.6292-3T>C rs562569205
NM_032776.3(JMJD1C):c.678+17A>T
NM_032776.3(JMJD1C):c.7402-14dup
NM_032776.3(JMJD1C):c.982_984del (p.Lys328del) rs750958010
NM_172107.4(KCNQ2):c.1118+1G>A rs397507449
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1632-1G>T rs118192233
NM_173354.5(SIK1):c.1463-5del rs1252502732
NM_173354.5(SIK1):c.1463-5dup
NM_173354.5(SIK1):c.1553C>T (p.Ala518Val) rs142171557
NM_173354.5(SIK1):c.156+11dup
NM_173354.5(SIK1):c.156+18G>C rs201427751
NM_173354.5(SIK1):c.1594G>T (p.Ala532Ser) rs761551726
NM_173354.5(SIK1):c.1605G>A (p.Pro535=) rs113434279
NM_173354.5(SIK1):c.1832A>G (p.Gln611Arg) rs1243997625
NM_173354.5(SIK1):c.1976+15del rs2146468542
NM_173354.5(SIK1):c.2108C>T (p.Thr703Met) rs1308366748
NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)
NM_173354.5(SIK1):c.2222T>G (p.Leu741Arg) rs1227514074
NM_173354.5(SIK1):c.274-3del rs550878772
NM_173354.5(SIK1):c.624+17C>T
NM_173354.5(SIK1):c.748+17C>T rs75559179

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