ClinVar Miner

List of variants reported as uncertain significance for electroclinical syndrome by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156 0.00012
NM_001191061.2(SLC25A22):c.871C>T (p.Arg291Cys) rs762897089 0.00003
NM_001130438.3(SPTAN1):c.6503C>T (p.Ala2168Val) rs767399516 0.00002
NM_001271.4(CHD2):c.4961A>G (p.Asn1654Ser) rs1064795301 0.00001
NM_004171.4(SLC1A2):c.107G>A (p.Arg36His) rs980878522 0.00001
NM_015192.4(PLCB1):c.3304T>C (p.Tyr1102His) rs376179077 0.00001
NM_000744.7(CHRNA4):c.1175C>T (p.Pro392Leu) rs2123471262
NM_000834.5(GRIN2B):c.157G>T (p.Ala53Ser)
NM_000834.5(GRIN2B):c.1957T>C (p.Phe653Leu)
NM_000834.5(GRIN2B):c.1961T>G (p.Met654Arg) rs1949320254
NM_000834.5(GRIN2B):c.2009A>T (p.Lys670Met)
NM_000834.5(GRIN2B):c.2555G>A (p.Gly852Asp)
NM_000834.5(GRIN2B):c.2699G>A (p.Arg900His)
NM_000834.5(GRIN2B):c.3073A>T (p.Ile1025Phe)
NM_000834.5(GRIN2B):c.3632G>A (p.Gly1211Glu) rs1255161034
NM_000834.5(GRIN2B):c.4312G>A (p.Val1438Met) rs763699668
NM_001040142.2(SCN2A):c.83G>A (p.Arg28His)
NM_001130438.3(SPTAN1):c.37G>C (p.Glu13Gln)
NM_001130438.3(SPTAN1):c.5804G>A (p.Cys1935Tyr)
NM_001134407.3(GRIN2A):c.1074C>G (p.His358Gln) rs763315364
NM_001134407.3(GRIN2A):c.3174C>A (p.His1058Gln) rs1064796658
NM_001134407.3(GRIN2A):c.3385C>T (p.His1129Tyr)
NM_001134407.3(GRIN2A):c.4006C>T (p.Leu1336Phe)
NM_001134407.3(GRIN2A):c.92C>G (p.Pro31Arg)
NM_001191061.2(SLC25A22):c.581T>G (p.Leu194Arg)
NM_001191061.2(SLC25A22):c.94G>C (p.Ala32Pro)
NM_001271.4(CHD2):c.1823G>A (p.Ser608Asn)
NM_001271.4(CHD2):c.2647G>A (p.Val883Ile)
NM_001271.4(CHD2):c.3780G>C (p.Glu1260Asp)
NM_001271.4(CHD2):c.5071C>T (p.Pro1691Ser) rs754463281
NM_001271.4(CHD2):c.688G>A (p.Val230Ile) rs762370978
NM_001323289.2(CDKL5):c.103A>G (p.Thr35Ala)
NM_001323289.2(CDKL5):c.216T>G (p.Ile72Met)
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter) rs122460158
NM_001323289.2(CDKL5):c.362A>G (p.Lys121Arg) rs2147142685
NM_001323289.2(CDKL5):c.37T>A (p.Phe13Ile) rs2147092100
NM_001323289.2(CDKL5):c.407T>G (p.Ile136Arg)
NM_004171.4(SLC1A2):c.1003A>G (p.Ile335Val)
NM_004171.4(SLC1A2):c.304A>G (p.Ile102Val) rs2134887083
NM_004171.4(SLC1A2):c.389T>C (p.Ile130Thr) rs1851734643
NM_004408.4(DNM1):c.1781+4C>T
NM_004408.4(DNM1):c.1892G>A (p.Gly631Glu)
NM_004408.4(DNM1):c.284A>G (p.Glu95Gly) rs1316212573
NM_004519.4(KCNQ3):c.2519C>T (p.Thr840Ile)
NM_004726.3(REPS2):c.1822C>T (p.Gln608Ter)
NM_015192.4(PLCB1):c.469A>G (p.Thr157Ala) rs2123290762
NM_015192.4(PLCB1):c.73G>A (p.Gly25Ser)
NM_015192.4(PLCB1):c.928G>A (p.Glu310Lys)
NM_021098.3(CACNA1H):c.3804C>G (p.Ser1268Arg) rs750607074
NM_139058.3(ARX):c.1610T>C (p.Leu537Pro)
NM_139058.3(ARX):c.611G>C (p.Arg204Pro)
NM_173354.5(SIK1):c.1463G>T (p.Cys488Phe)
NM_173354.5(SIK1):c.1658A>C (p.Gln553Pro)
NM_173354.5(SIK1):c.2065T>A (p.Cys689Ser) rs772047499
NM_173354.5(SIK1):c.2099C>T (p.Thr700Ile)
NM_173354.5(SIK1):c.2117T>A (p.Leu706His)
NM_173354.5(SIK1):c.2336T>A (p.Phe779Tyr)

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