List of variants in gene KCNC2 reported as likely pathogenic for developmental and epileptic encephalopathy 103

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_139137.4(KCNC2):c.1210G>A (p.Glu404Lys)	rs1260222970	0.00001
NM_139137.4(KCNC2):c.1163T>C (p.Phe388Ser)	rs2547844200
NM_139137.4(KCNC2):c.1181T>C (p.Leu394Ser)
NM_139137.4(KCNC2):c.1405G>C (p.Val469Leu)
NM_139137.4(KCNC2):c.1408C>T (p.Pro470Ser)	rs1881066861
NM_139137.4(KCNC2):c.487G>A (p.Glu163Lys)	rs2548168192

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