ClinVar Miner

List of variants reported as uncertain significance for electroclinical syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (101):
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ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser) rs531782747 0.00005
NM_000814.6(GABRB3):c.1033A>G (p.Lys345Glu) rs1224993536 0.00002
NM_001130438.3(SPTAN1):c.7234G>A (p.Glu2412Lys) rs1336849921 0.00002
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile) rs746532292 0.00002
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732 0.00001
NM_001130438.3(SPTAN1):c.2617G>A (p.Glu873Lys) rs776279771 0.00001
NM_001134407.3(GRIN2A):c.1343A>G (p.Glu448Gly) rs1273711716 0.00001
NM_001191061.2(SLC25A22):c.199C>T (p.Arg67Trp) rs780763318 0.00001
NM_001271.4(CHD2):c.2507G>A (p.Arg836His) rs1429832116 0.00001
NM_001323289.2(CDKL5):c.2318A>G (p.Glu773Gly) rs1218990219 0.00001
NM_001330260.2(SCN8A):c.5583G>C (p.Glu1861Asp) rs1352614116 0.00001
NM_004519.4(KCNQ3):c.1582C>T (p.Arg528Cys) rs1393085163 0.00001
NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg) rs767799831 0.00001
NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr) rs1415854808 0.00001
NM_198904.4(GABRG2):c.372A>T (p.Arg124Ser) rs754884716 0.00001
NM_000814.6(GABRB3):c.151C>G (p.Arg51Gly) rs2140199581
NM_000814.6(GABRB3):c.437A>C (p.Asp146Ala)
NM_000814.6(GABRB3):c.486G>C (p.Met162Ile) rs2140737836
NM_000814.6(GABRB3):c.880C>T (p.Arg294Trp)
NM_000814.6(GABRB3):c.8del (p.Gly3fs) rs1891196700
NM_000834.5(GRIN2B):c.1648T>C (p.Phe550Leu)
NM_000834.5(GRIN2B):c.2010G>A (p.Lys670=) rs1369104116
NM_000834.5(GRIN2B):c.2510T>C (p.Ile837Thr) rs1565455844
NM_000834.5(GRIN2B):c.718A>G (p.Ile240Val) rs2136629212
NM_001040142.2(SCN2A):c.2636G>T (p.Gly879Val) rs1559376694
NM_001040142.2(SCN2A):c.4579T>G (p.Phe1527Val)
NM_001110792.2(MECP2):c.1328A>C (p.Lys443Thr) rs2065906320
NM_001130438.3(SPTAN1):c.2197C>T (p.Arg733Ter) rs1852298912
NM_001130438.3(SPTAN1):c.2612del (p.Lys871fs) rs1852530020
NM_001130438.3(SPTAN1):c.2815C>T (p.Leu939Phe) rs1852827656
NM_001130438.3(SPTAN1):c.4455A>C (p.Lys1485Asn) rs1856146384
NM_001130438.3(SPTAN1):c.4561G>T (p.Asp1521Tyr)
NM_001130438.3(SPTAN1):c.6611G>A (p.Arg2204Gln) rs1858936991
NM_001130438.3(SPTAN1):c.74G>A (p.Arg25Gln) rs1850091477
NM_001134407.3(GRIN2A):c.1400T>A (p.Leu467His) rs2042668320
NM_001134407.3(GRIN2A):c.1579C>A (p.Pro527Thr)
NM_001134407.3(GRIN2A):c.2047G>C (p.Gly683Arg)
NM_001134407.3(GRIN2A):c.2221A>G (p.Arg741Gly) rs1903135567
NM_001134407.3(GRIN2A):c.2251G>T (p.Gly751Trp)
NM_001134407.3(GRIN2A):c.2335_2336delinsAG (p.Leu779Arg) rs1903126465
NM_001134407.3(GRIN2A):c.2336T>G (p.Leu779Trp) rs1555488084
NM_001134407.3(GRIN2A):c.2844del (p.Gln950fs)
NM_001271.4(CHD2):c.1681_1692del (p.Val561_Tyr564del) rs2141811654
NM_001271.4(CHD2):c.229C>G (p.Pro77Ala) rs1228076921
NM_001271.4(CHD2):c.3031A>G (p.Thr1011Ala) rs2053978897
NM_001271.4(CHD2):c.3542G>A (p.Cys1181Tyr) rs2141861661
NM_001271.4(CHD2):c.3696_3886-11del
NM_001271.4(CHD2):c.3805C>G (p.Leu1269Val) rs1308763946
NM_001271.4(CHD2):c.5234C>G (p.Ser1745Cys) rs2141761439
NM_001323289.2(CDKL5):c.2213_2215del (p.Ser738del) rs1926618813
NM_001330260.2(SCN8A):c.2702A>G (p.Tyr901Cys) rs1942829767
NM_001330260.2(SCN8A):c.3583G>A (p.Val1195Met) rs1942911383
NM_001330260.2(SCN8A):c.5499T>A (p.Asp1833Glu) rs1198058104
NM_001394067.2(RAPGEF2):c.4958-8A>G rs1732314095
NM_004408.4(DNM1):c.1138G>T (p.Asp380Tyr) rs1835101754
NM_004408.4(DNM1):c.119A>C (p.Gln40Pro) rs2131061484
NM_004408.4(DNM1):c.1372C>T (p.Arg458Cys)
NM_004408.4(DNM1):c.320G>A (p.Arg107Lys)
NM_004408.4(DNM1):c.958G>C (p.Asp320His) rs1588368840
NM_004519.4(KCNQ3):c.680G>A (p.Arg227Gln) rs1826712021
NM_014191.4(SCN8A):c.652G>T (p.Ala218Ser) rs2138716131
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu) rs2048683301
NM_139058.3(ARX):c.1522G>A (p.Val508Met) rs2048670414
NM_139058.3(ARX):c.1546G>T (p.Ala516Ser) rs747042039
NM_139058.3(ARX):c.1684T>C (p.Cys562Arg) rs2048668859
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) rs757588621
NM_139058.3(ARX):c.946G>A (p.Gly316Ser) rs2048708756
NM_198904.4(GABRG2):c.108-1G>T
NM_198904.4(GABRG2):c.1358C>T (p.Ala453Val) rs2113651364
NM_198904.4(GABRG2):c.403C>T (p.Leu135Phe) rs74930063

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