ClinVar Miner

List of variants in gene EFHC1 reported as benign for Juvenile myoclonic epilepsy; Typical absence seizures

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Total variants: 22
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NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln) rs377732929
NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys) rs505760
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471
NM_018100.4(EFHC1):c.1155C>T (p.Asn385=) rs115913738
NM_018100.4(EFHC1):c.1224C>T (p.Asp408=) rs116134831
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=) rs377227885
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191
NM_018100.4(EFHC1):c.1820A>G (p.Asn607Ser) rs115475262
NM_018100.4(EFHC1):c.1821C>T (p.Asn607=) rs777238548
NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=) rs35648306
NM_018100.4(EFHC1):c.210A>G (p.Pro70=) rs145367062
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334
NM_018100.4(EFHC1):c.25T>C (p.Leu9=) rs149315015
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) rs3804506
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379
NM_018100.4(EFHC1):c.64-5T>C rs201860746
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys) rs139197513
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776
NM_018100.4(EFHC1):c.881G>A (p.Arg294His) rs1570624
NM_018100.4(EFHC1):c.887G>A (p.Arg296His) rs115205076

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