ClinVar Miner

List of variants studied for electroclinical syndrome by Revvity Omics, Revvity

Included ClinVar conditions (113):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556 0.00148
NM_001271.4(CHD2):c.4762C>T (p.Arg1588Trp) rs139646715 0.00049
NM_004519.4(KCNQ3):c.*6460C>T rs763946605 0.00036
NM_173354.5(SIK1):c.2159C>T (p.Pro720Leu) rs547049916 0.00032
NM_000814.6(GABRB3):c.19G>A (p.Gly7Arg) rs759931649 0.00022
NM_021927.3(GUF1):c.514C>G (p.Gln172Glu) rs116300982 0.00014
NM_173354.5(SIK1):c.1604C>T (p.Pro535Leu) rs373576665 0.00010
NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564 0.00009
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr) rs146275216 0.00007
NM_001271.4(CHD2):c.553A>G (p.Thr185Ala) rs1442904433 0.00006
NM_004171.4(SLC1A2):c.344G>A (p.Arg115His) rs200754925 0.00006
NM_001134407.3(GRIN2A):c.2811T>A (p.Asp937Glu) rs570907044 0.00005
NM_001134407.3(GRIN2A):c.3505C>T (p.Arg1169Trp) rs369878342 0.00005
NM_173354.5(SIK1):c.1055A>G (p.Gln352Arg) rs767076281 0.00005
NM_000814.6(GABRB3):c.650G>A (p.Arg217His) rs121913125 0.00004
NM_001134407.3(GRIN2A):c.3363T>G (p.Asp1121Glu) rs764292783 0.00004
NM_001134407.3(GRIN2A):c.3427G>A (p.Glu1143Lys) rs61758996 0.00004
NM_001134407.3(GRIN2A):c.3787G>A (p.Gly1263Arg) rs142113044 0.00004
NM_001134407.3(GRIN2A):c.3884T>C (p.Ile1295Thr) rs757351084 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_001271.4(CHD2):c.5047G>A (p.Ala1683Thr) rs747794466 0.00004
NM_003159.3(CDKL5):c.2941C>G (p.Arg981Gly) rs374054249 0.00004
NM_015192.4(PLCB1):c.2564C>T (p.Ala855Val) rs201764744 0.00004
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu) rs369631109 0.00003
NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr) rs756369937 0.00003
NM_001134407.3(GRIN2A):c.1007C>T (p.Pro336Leu) rs757262372 0.00003
NM_001134407.3(GRIN2A):c.3854G>A (p.Arg1285Lys) rs367543132 0.00003
NM_001191061.2(SLC25A22):c.279G>C (p.Gln93His) rs769730725 0.00002
NM_015192.4(PLCB1):c.3059G>A (p.Arg1020Gln) rs758283980 0.00002
NM_001134407.3(GRIN2A):c.3017C>T (p.Ala1006Val) rs200526162 0.00001
NM_001134407.3(GRIN2A):c.3722G>A (p.Arg1241Gln) rs886042648 0.00001
NM_001134407.3(GRIN2A):c.943G>A (p.Glu315Lys) rs765104792 0.00001
NM_001271.4(CHD2):c.1503-5T>C rs1008040869 0.00001
NM_001271.4(CHD2):c.185G>A (p.Ser62Asn) rs886041165 0.00001
NM_004171.4(SLC1A2):c.1225G>A (p.Ala409Thr) rs1022532582 0.00001
NM_004519.4(KCNQ3):c.1552G>A (p.Ala518Thr) rs745463637 0.00001
NM_173354.5(SIK1):c.1456G>A (p.Ala486Thr) rs1225191975 0.00001
NM_000814.6(GABRB3):c.581G>A (p.Arg194Gln) rs369581041
NM_000814.6(GABRB3):c.914C>T (p.Ala305Val) rs1555401425
NM_001134407.3(GRIN2A):c.*6085G>A
NM_001134407.3(GRIN2A):c.1006C>A (p.Pro336Thr)
NM_001134407.3(GRIN2A):c.1084G>A (p.Val362Met)
NM_001134407.3(GRIN2A):c.1777+6G>T rs76549675
NM_001134407.3(GRIN2A):c.2323A>G (p.Ile775Val)
NM_001134407.3(GRIN2A):c.2494C>T (p.Leu832Phe) rs145495027
NM_001134407.3(GRIN2A):c.2620G>A (p.Val874Met)
NM_001134407.3(GRIN2A):c.2635AAG[2] (p.Lys881del) rs766019656
NM_001134407.3(GRIN2A):c.3152A>G (p.Tyr1051Cys) rs1567277844
NM_001134407.3(GRIN2A):c.3506G>A (p.Arg1169Gln) rs761399460
NM_001134407.3(GRIN2A):c.3877G>A (p.Asp1293Asn)
NM_001134407.3(GRIN2A):c.734C>G (p.Ser245Cys)
NM_001134407.3(GRIN2A):c.914C>G (p.Ser305Cys) rs1596344343
NM_001134407.3(GRIN2A):c.942del (p.Glu315fs)
NM_001191061.2(SLC25A22):c.200G>T (p.Arg67Leu)
NM_001191061.2(SLC25A22):c.407G>A (p.Arg136His)
NM_001191061.2(SLC25A22):c.524G>A (p.Arg175His) rs769329043
NM_001191061.2(SLC25A22):c.674T>G (p.Phe225Cys)
NM_001191061.2(SLC25A22):c.955C>T (p.Gln319Ter)
NM_001271.4(CHD2):c.1993C>T (p.Pro665Ser) rs768407397
NM_001271.4(CHD2):c.2001-4del
NM_001271.4(CHD2):c.2345T>G (p.Ile782Ser)
NM_001271.4(CHD2):c.2402C>G (p.Thr801Arg) rs372801085
NM_001271.4(CHD2):c.3266_3271delinsGTGACTCTGA (p.Thr1089fs) rs2141851950
NM_001271.4(CHD2):c.3751C>T (p.Arg1251Cys) rs2054200484
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.4097C>G (p.Pro1366Arg)
NM_001271.4(CHD2):c.40T>G (p.Ser14Ala) rs2052525047
NM_001271.4(CHD2):c.4111A>G (p.Asn1371Asp) rs745311012
NM_001271.4(CHD2):c.4162A>G (p.Met1388Val)
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271.4(CHD2):c.4233_4236del (p.Glu1412fs) rs864309543
NM_001271.4(CHD2):c.4289G>A (p.Gly1430Asp)
NM_001271.4(CHD2):c.4305G>A (p.Ser1435=)
NM_001271.4(CHD2):c.4500A>T (p.Glu1500Asp) rs776113114
NM_001271.4(CHD2):c.4799A>G (p.Asn1600Ser)
NM_001271.4(CHD2):c.4901A>T (p.Asn1634Ile) rs761860129
NM_001271.4(CHD2):c.5119C>G (p.Arg1707Gly)
NM_001271.4(CHD2):c.5155C>T (p.His1719Tyr)
NM_001271.4(CHD2):c.5202A>C (p.Gln1734His) rs1009699195
NM_001271.4(CHD2):c.522A>C (p.Lys174Asn)
NM_001271.4(CHD2):c.955A>G (p.Ser319Gly)
NM_001323289.2(CDKL5):c.1671dup (p.Arg558fs) rs587783115
NM_001323289.2(CDKL5):c.1803C>G (p.Pro601=)
NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=)
NM_001323289.2(CDKL5):c.2332G>A (p.Gly778Arg)
NM_001323289.2(CDKL5):c.2422A>G (p.Ile808Val)
NM_001323289.2(CDKL5):c.2636del (p.Leu879fs) rs2147179000
NM_001323289.2(CDKL5):c.388_390del (p.Asp130del)
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001323289.2(CDKL5):c.745-1G>T rs2147153521
NM_004171.4(SLC1A2):c.1154_1155del (p.Val385fs)
NM_004171.4(SLC1A2):c.1601C>A (p.Ser534Tyr)
NM_004171.4(SLC1A2):c.1639G>A (p.Val547Ile)
NM_004171.4(SLC1A2):c.1715G>A (p.Arg572His)
NM_004171.4(SLC1A2):c.236C>A (p.Ala79Asp)
NM_004171.4(SLC1A2):c.260G>A (p.Arg87Lys)
NM_004171.4(SLC1A2):c.456G>C (p.Gln152His)
NM_004171.4(SLC1A2):c.469A>G (p.Lys157Glu) rs1851730752
NM_004171.4(SLC1A2):c.626G>A (p.Ser209Asn)
NM_004171.4(SLC1A2):c.777G>A (p.Met259Ile)
NM_004519.4(KCNQ3):c.1445C>T (p.Ala482Val)
NM_004519.4(KCNQ3):c.2014A>G (p.Lys672Glu) rs554613662
NM_004519.4(KCNQ3):c.2060A>G (p.Tyr687Cys)
NM_004519.4(KCNQ3):c.2098C>T (p.His700Tyr)
NM_004519.4(KCNQ3):c.2572G>A (p.Asp858Asn)
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_005076.5(CNTN2):c.418C>T (p.Arg140Ter)
NM_015192.4(PLCB1):c.1232T>C (p.Phe411Ser)
NM_015192.4(PLCB1):c.3394C>T (p.Arg1132Cys)
NM_015192.4(PLCB1):c.437T>C (p.Met146Thr)
NM_020151.4(STARD7):c.542A>G (p.Asn181Ser)
NM_021927.3(GUF1):c.1250T>A (p.Leu417Gln)
NM_173354.5(SIK1):c.1433C>T (p.Ser478Phe)
NM_173354.5(SIK1):c.1463G>A (p.Cys488Tyr) rs769962713
NM_173354.5(SIK1):c.2059G>T (p.Ala687Ser)
NM_173354.5(SIK1):c.2152G>A (p.Ala718Thr)
NM_173354.5(SIK1):c.580G>A (p.Val194Ile) rs367965361

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