ClinVar Miner

List of variants in gene EFHC1 reported as benign for epilepsy

Included ClinVar conditions (435):
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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.*121C>A rs7757370 0.87583
NM_018100.4(EFHC1):c.*1180G>A rs4455668 0.87433
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770 0.06310
NM_018100.4(EFHC1):c.545G>A (p.Arg182His) rs3804505 0.05453
NM_018100.4(EFHC1):c.881G>A (p.Arg294His) rs1570624 0.00969
NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=) rs35648306 0.00805
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334 0.00789
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183 0.00778
NM_018100.4(EFHC1):c.1224C>T (p.Asp408=) rs116134831 0.00613
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379 0.00408
NM_018100.4(EFHC1):c.210A>G (p.Pro70=) rs145367062 0.00385
NM_018100.4(EFHC1):c.25T>C (p.Leu9=) rs149315015 0.00264
NM_018100.4(EFHC1):c.887G>A (p.Arg296His) rs115205076 0.00261
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_018100.4(EFHC1):c.1155C>T (p.Asn385=) rs115913738 0.00210
NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys) rs505760 0.00170
NM_018100.4(EFHC1):c.1820A>G (p.Asn607Ser) rs115475262 0.00140
NM_018100.4(EFHC1):c.64-5T>C rs201860746 0.00063
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=) rs377227885 0.00021
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys) rs139197513 0.00019
NM_018100.4(EFHC1):c.731G>A (p.Arg244Gln) rs140476054 0.00010
NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln) rs377732929 0.00008
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721 0.00008
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 0.00006
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471 0.00003
NM_018100.4(EFHC1):c.1821C>T (p.Asn607=) rs777238548 0.00001
NM_018100.4(EFHC1):c.*1749_*1750insAC rs58779695
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly) rs3804506
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506
NM_018100.4(EFHC1):c.723+106C>T rs190021570
NM_018100.4(EFHC1):c.723+66del rs142210037

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