ClinVar Miner

List of variants reported as benign for neonatal period electroclinical syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 177
Download table as spreadsheet
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_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_032776.3(JMJD1C):c.7605G>C (p.Glu2535Asp) rs1935 0.42516
NM_173354.5(SIK1):c.43G>A (p.Gly15Ser) rs3746951 0.18525
NM_173354.5(SIK1):c.156+15T>C rs56796001 0.09264
NM_004519.4(KCNQ3):c.1071C>G (p.Leu357=) rs17575754 0.05655
NM_032776.3(JMJD1C):c.1771A>G (p.Met591Val) rs41274072 0.05413
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_173354.5(SIK1):c.948C>T (p.Gly316=) rs17004546 0.03875
NM_032776.3(JMJD1C):c.1547C>G (p.Thr516Ser) rs41274074 0.03270
NM_032776.3(JMJD1C):c.447+7A>C rs73290502 0.02681
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_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.1700+3G>A rs115092422 0.01419
NM_032776.3(JMJD1C):c.814G>A (p.Ala272Thr) rs34798625 0.01383
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_032776.3(JMJD1C):c.6570+3G>A rs76935733 0.00908
NM_032776.3(JMJD1C):c.1379T>C (p.Met460Thr) rs151186255 0.00854
NM_004519.4(KCNQ3):c.1551C>T (p.Ala517=) rs35538317 0.00761
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_173354.5(SIK1):c.906C>T (p.Gly302=) rs113379599 0.00615
NM_173354.5(SIK1):c.930T>C (p.Gly310=) rs112660017 0.00609
NM_173354.5(SIK1):c.1463-7C>T rs142866662 0.00575
NM_004519.4(KCNQ3):c.948C>T (p.Thr316=) rs142144538 0.00564
NM_032776.3(JMJD1C):c.699C>T (p.Val233=) rs74138760 0.00482
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632 0.00446
NM_012281.3(KCND2):c.1116-16T>A rs192275893 0.00442
NM_032776.3(JMJD1C):c.5940G>A (p.Pro1980=) rs34825545 0.00431
NM_173354.5(SIK1):c.1288C>T (p.Arg430Trp) rs34164089 0.00424
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_173354.5(SIK1):c.1470C>T (p.Val490=) rs144693254 0.00188
NM_173354.5(SIK1):c.1463-18G>A rs370691454 0.00179
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555 0.00165
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_173354.5(SIK1):c.951G>T (p.Val317=) rs113514102 0.00102
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_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_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.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_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_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_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_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_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_012281.3(KCND2):c.1279-4A>G rs530629463 0.00005
NM_004519.4(KCNQ3):c.1665C>T (p.Leu555=) rs143511163 0.00004
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_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_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.1141-18del rs2130109811
NM_004519.4(KCNQ3):c.1236-20dup rs754643102
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_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_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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