List of variants reported as uncertain significance for developmental and epileptic encephalopathy by SIB Swiss Institute of Bioinformatics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)	rs35201073	0.00128
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met)	rs371709824	0.00009
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)	rs147227819	0.00005
NM_001042646.3(TRAK1):c.986T>C (p.Leu329Pro)	rs770281448	0.00001
NM_016188.5(ACTL6B):c.1275C>A (p.Cys425Ter)	rs1584466132	0.00001
NM_016188.5(ACTL6B):c.389G>A (p.Arg130Gln)	rs757603505	0.00001
NM_152268.4(PARS2):c.836C>T (p.Ser279Leu)	rs730882153	0.00001
NM_012479.4(YWHAG):c.148A>C (p.Lys50Gln)	rs1554616652
NM_012479.4(YWHAG):c.44A>C (p.Glu15Ala)	rs1554618767
NM_015213.4(DENND5A):c.1622A>G (p.Asp541Gly)	rs1057519309
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del)	rs772520618
NM_152268.4(PARS2):c.239T>C (p.Ile80Thr)	rs1246773873
NM_152268.4(PARS2):c.604C>G (p.Arg202Gly)	rs141760650
NM_152268.4(PARS2):c.607G>A (p.Glu203Lys)	rs1557762729

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