List of variants studied for epilepsy by Institute of Human Genetics, Heidelberg University

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		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys)	rs1189054127	0.00002
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His)	rs121918616
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)	rs794726726
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met)	rs2053619460
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser)	rs587777162
NM_004975.4(KCNB1):c.1088del (p.Ser363fs)	rs1555889103
NM_006772.3(SYNGAP1):c.3319C>T (p.Gln1107Ter)	rs1554122368
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys)	rs1563292586
NM_031844.3(HNRNPU):c.1463del (p.Pro488fs)
NM_031844.3(HNRNPU):c.1466del (p.Lys489fs)
NM_172107.4(KCNQ2):c.763A>C (p.Lys255Gln)

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