List of variants reported as uncertain significance for Typical absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_018100.4(EFHC1):c.1225G>A (p.Val409Ile)	rs766874585	0.00003
NM_018100.4(EFHC1):c.286-1G>A	rs1351442830	0.00003
NM_018100.4(EFHC1):c.1147C>T (p.Pro383Ser)	rs546262142	0.00002
NM_018100.4(EFHC1):c.674C>G (p.Thr225Ser)	rs267601073	0.00002
NM_018100.4(EFHC1):c.1004T>G (p.Leu335Arg)	rs1231287887	0.00001
NM_018100.4(EFHC1):c.1110C>T (p.Ser370=)	rs757987501	0.00001
NM_018100.4(EFHC1):c.1288dup (p.Ile430fs)	rs752642262	0.00001
NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn)	rs148615781	0.00001
NM_018100.4(EFHC1):c.815C>T (p.Thr272Met)	rs143655397	0.00001
NM_018100.4(EFHC1):c.827G>A (p.Arg276Gln)	rs758695181	0.00001
NM_018100.4(EFHC1):c.134T>C (p.Val45Ala)	rs1764249661
NM_018100.4(EFHC1):c.1549G>T (p.Glu517Ter)	rs1765630267
NM_018100.4(EFHC1):c.1549_1559delinsTTTTGAAATACA (p.Glu517_Ala520delinsPheTer)	rs1554261668
NM_018100.4(EFHC1):c.1699C>T (p.Gln567Ter)	rs1765867667
NM_018100.4(EFHC1):c.226C>T (p.Gln76Ter)	rs11552772
NM_018100.4(EFHC1):c.277G>C (p.Asp93His)	rs1764254615
NM_018100.4(EFHC1):c.530A>T (p.Tyr177Phe)	rs1764588785
NM_018100.4(EFHC1):c.637A>G (p.Thr213Ala)	rs201379297
NM_018100.4(EFHC1):c.666_674delinsAAG (p.Tyr223_Thr225delinsSer)	rs1554259746
NM_018100.4(EFHC1):c.757G>A (p.Asp253Asn)	rs137852778

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