List of variants reported as uncertain significance for childhood-onset epilepsy syndrome by Centogene AG - the Rare Disease Company

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_001242896.3(DEPDC5):c.1408C>T (p.Pro470Ser)	rs371312649	0.00006
NM_005045.4(RELN):c.401G>C (p.Ser134Thr)	rs1399507011	0.00002
NM_001134407.3(GRIN2A):c.3455A>C (p.Gln1152Pro)	rs1268024101	0.00001
NM_000744.7(CHRNA4):c.919G>A (p.Gly307Ser)	rs764586079
NM_000748.3(CHRNB2):c.919C>A (p.Leu307Ile)	rs200720061
NM_001112741.2(KCNC1):c.847T>C (p.Phe283Leu)	rs940677477
NM_001134407.3(GRIN2A):c.1877C>A (p.Thr626Asn)	rs2141312664
NM_004408.4(DNM1):c.1116C>G (p.Phe372Leu)	rs367584321
NM_005045.4(RELN):c.8260del (p.Ile2754fs)	rs2117061849
NM_020361.5(CPA6):c.1294C>A (p.Leu432Met)	rs569889471
NM_021098.3(CACNA1H):c.2063C>T (p.Pro688Leu)	rs2141277985

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