ClinVar Miner

List of variants studied for electroclinical syndrome by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (101):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631 0.00002
NM_001271.4(CHD2):c.2189A>G (p.Lys730Arg) rs767965789 0.00001
NM_001134407.3(GRIN2A):c.1273del (p.Pro424_Leu425insTer) rs879253760
NM_001323289.2(CDKL5):c.38T>C (p.Phe13Ser) rs1922605766
NM_001323289.2(CDKL5):c.463+5G>A rs886042303
NM_001323289.2(CDKL5):c.665del (p.Thr222fs)
NM_139058.3(ARX):c.1430del (p.Ile477fs)
NM_139058.3(ARX):c.1472del (p.Leu491fs) rs2147318790
NM_139058.3(ARX):c.1A>T (p.Met1Leu)
NM_172107.4(KCNQ2):c.197del (p.Lys66fs) rs2082235501

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