ClinVar Miner

List of variants reported as uncertain significance for electroclinical syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.6178G>C (p.Glu2060Gln) rs751423380 0.00001
NM_001271.4(CHD2):c.826G>A (p.Ala276Thr) rs375521197 0.00001
NM_000814.6(GABRB3):c.1052A>G (p.Asn351Ser) rs763319754
NM_000814.6(GABRB3):c.1340C>T (p.Ala447Val)
NM_000814.6(GABRB3):c.406G>A (p.Val136Met)
NM_001130438.3(SPTAN1):c.136T>C (p.Phe46Leu)
NM_001130438.3(SPTAN1):c.1708G>A (p.Ala570Thr) rs2131129868
NM_001134407.3(GRIN2A):c.2572G>C (p.Gly858Arg)
NM_001271.4(CHD2):c.32A>G (p.Glu11Gly)
NM_001271.4(CHD2):c.4074G>T (p.Glu1358Asp)
NM_001271.4(CHD2):c.4964C>T (p.Pro1655Leu)
NM_001271.4(CHD2):c.516A>C (p.Gln172His)
NM_001271.4(CHD2):c.598G>A (p.Gly200Arg)
NM_001323289.2(CDKL5):c.1961C>T (p.Pro654Leu)
NM_001323289.2(CDKL5):c.2120C>G (p.Pro707Arg)
NM_004408.4(DNM1):c.2510A>C (p.Asn837Thr)
NM_004519.4(KCNQ3):c.2044A>G (p.Thr682Ala) rs768163501
NM_015192.4(PLCB1):c.1729G>A (p.Glu577Lys) rs1600279991
NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer) rs1555513044
NM_021098.3(CACNA1H):c.4717C>T (p.Arg1573Ter) rs1567543511

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