ClinVar Miner

List of variants in gene EFHC1 reported as uncertain significance for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP
NM_018100.3(EFHC1):c.*1024C>T rs372975445
NM_018100.3(EFHC1):c.*1025_*1044dup rs59794069
NM_018100.3(EFHC1):c.*1027_*1044dup rs59794069
NM_018100.3(EFHC1):c.*1037_*1044dupATATATAT rs59794069
NM_018100.3(EFHC1):c.*1039_*1044dupATATAT rs59794069
NM_018100.3(EFHC1):c.*1041_*1044dupATAT rs59794069
NM_018100.3(EFHC1):c.*1044_*1045insATATATATATATATATATATAT rs59794069
NM_018100.3(EFHC1):c.*1045delTinsATATATATATATA rs886061633
NM_018100.3(EFHC1):c.*1045delTinsATATATATATATATATATATATATATATATATA rs886061633
NM_018100.3(EFHC1):c.*1072_*1073delAC rs886061634
NM_018100.3(EFHC1):c.*140C>T rs78906153
NM_018100.3(EFHC1):c.*1483_*1484delTC rs886061636
NM_018100.3(EFHC1):c.*1576C>A rs547537212
NM_018100.3(EFHC1):c.*1813dupA rs201262358
NM_018100.3(EFHC1):c.*1876T>G rs148070071
NM_018100.3(EFHC1):c.*2023T>C rs886061638
NM_018100.3(EFHC1):c.*2211C>T rs753392817
NM_018100.3(EFHC1):c.*226A>G rs562067977
NM_018100.3(EFHC1):c.*2430C>T rs749445189
NM_018100.3(EFHC1):c.*2913G>C rs886061639
NM_018100.3(EFHC1):c.*527C>T rs540732861
NM_018100.3(EFHC1):c.*551_*552dupTA rs886061631
NM_018100.3(EFHC1):c.*66C>G rs574373324
NM_018100.3(EFHC1):c.*681G>A rs560182875
NM_018100.3(EFHC1):c.*896C>T rs112311115
NM_018100.3(EFHC1):c.*957C>T rs761411516
NM_018100.3(EFHC1):c.*99T>A rs151292895
NM_018100.3(EFHC1):c.-162C>T rs41273738
NM_018100.3(EFHC1):c.1057C>T (p.Arg353Trp) rs527295360
NM_018100.3(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471
NM_018100.3(EFHC1):c.1147C>T (p.Pro383Ser) rs546262142
NM_018100.3(EFHC1):c.1180G>A (p.Ala394Thr)
NM_018100.3(EFHC1):c.1194T>C (p.Phe398=) rs201946033
NM_018100.3(EFHC1):c.1197T>C (p.Ala399=) rs886061630
NM_018100.3(EFHC1):c.1221dupA (p.Asp408Argfs) rs754483740
NM_018100.3(EFHC1):c.125G>A (p.Arg42His) rs773598517
NM_018100.3(EFHC1):c.1265A>T (p.Tyr422Phe) rs750259384
NM_018100.3(EFHC1):c.1306C>T (p.Arg436Cys) rs377286138
NM_018100.3(EFHC1):c.1369C>T (p.Arg457Cys) rs373196171
NM_018100.3(EFHC1):c.1370G>T (p.Arg457Leu) rs369468811
NM_018100.3(EFHC1):c.1385T>C (p.Ile462Thr) rs200116252
NM_018100.3(EFHC1):c.1396T>G (p.Tyr466Asp)
NM_018100.3(EFHC1):c.144C>T (p.Gly48=) rs372240827
NM_018100.3(EFHC1):c.1451A>G (p.Tyr484Cys) rs201261630
NM_018100.3(EFHC1):c.1492+1G>A rs191404037
NM_018100.3(EFHC1):c.151C>T (p.Arg51Trp) rs374661645
NM_018100.3(EFHC1):c.1549_1559delGAGAGCAACGCinsTTTTGAAATACA (p.Glu517Phefs) rs1554261668
NM_018100.3(EFHC1):c.1557C>T (p.Asn519=) rs773385237
NM_018100.3(EFHC1):c.1562C>G (p.Ala521Gly)
NM_018100.3(EFHC1):c.1586C>A (p.Ala529Glu) rs759944784
NM_018100.3(EFHC1):c.1587G>A (p.Ala529=) rs377227885
NM_018100.3(EFHC1):c.1607G>C (p.Arg536Pro)
NM_018100.3(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588
NM_018100.3(EFHC1):c.1641-6C>G rs1554262183
NM_018100.3(EFHC1):c.165C>G (p.Asn55Lys)
NM_018100.3(EFHC1):c.1665C>T (p.Gly555=) rs369201702
NM_018100.3(EFHC1):c.1739G>C (p.Arg580Pro) rs752701116
NM_018100.3(EFHC1):c.1765G>A (p.Glu589Lys) rs201197637
NM_018100.3(EFHC1):c.1768G>C (p.Ala590Pro)
NM_018100.3(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191
NM_018100.3(EFHC1):c.1841_1851+13del rs775583843
NM_018100.3(EFHC1):c.187G>A (p.Asp63Asn) rs750083920
NM_018100.3(EFHC1):c.1888A>G (p.Asn630Asp) rs747171841
NM_018100.3(EFHC1):c.1892A>G (p.Tyr631Cys) rs574948354
NM_018100.3(EFHC1):c.1895A>G (p.Tyr632Cys) rs770182350
NM_018100.3(EFHC1):c.241C>T (p.Pro81Ser)
NM_018100.3(EFHC1):c.266A>G (p.His89Arg) rs543160745
NM_018100.3(EFHC1):c.346A>G (p.Arg116Gly) rs886061627
NM_018100.3(EFHC1):c.379G>C (p.Glu127Gln) rs1554258778
NM_018100.3(EFHC1):c.40G>A (p.Gly14Ser) rs1554257650
NM_018100.3(EFHC1):c.43A>G (p.Thr15Ala) rs750899949
NM_018100.3(EFHC1):c.484C>T (p.His162Tyr) rs112800954
NM_018100.3(EFHC1):c.526A>G (p.Ile176Val)
NM_018100.3(EFHC1):c.547G>A (p.Val183Ile) rs769591944
NM_018100.3(EFHC1):c.558_559delTG (p.Cys186Terfs)
NM_018100.3(EFHC1):c.559G>A (p.Asp187Asn) rs148615781
NM_018100.3(EFHC1):c.564A>G (p.Gln188=) rs766444850
NM_018100.3(EFHC1):c.629A>T (p.Asp210Val) rs73740379
NM_018100.3(EFHC1):c.637A>T (p.Thr213Ser)
NM_018100.3(EFHC1):c.64-5T>C rs201860746
NM_018100.3(EFHC1):c.647G>A (p.Arg216Gln) rs77682973
NM_018100.3(EFHC1):c.666_671delGTATGT (p.Lys222_Val224delinsAsn) rs886061628
NM_018100.3(EFHC1):c.666_674delGTATGTCACinsAAG (p.Tyr223_Thr225delinsSer) rs1554259746
NM_018100.3(EFHC1):c.682_692delGACTTTGATCA (p.Asp228Thrfs) rs775980459
NM_018100.3(EFHC1):c.68C>T (p.Thr23Ile) rs779993809
NM_018100.3(EFHC1):c.731G>A (p.Arg244Gln) rs140476054
NM_018100.3(EFHC1):c.749A>T (p.Asp250Val)
NM_018100.3(EFHC1):c.779G>A (p.Arg260Gln) rs145754721
NM_018100.3(EFHC1):c.797A>G (p.Tyr266Cys)
NM_018100.3(EFHC1):c.800A>G (p.Tyr267Cys) rs886061629
NM_018100.3(EFHC1):c.817G>T (p.Val273Leu) rs369926953
NM_018100.3(EFHC1):c.879C>G (p.Asn293Lys)
NM_018100.3(EFHC1):c.880C>T (p.Arg294Cys)
NM_018100.3(EFHC1):c.887G>A (p.Arg296His) rs115205076
NM_018100.3(EFHC1):c.896A>G (p.Lys299Arg)
NM_018100.3(EFHC1):c.90G>A (p.Thr30=) rs140429638
NM_018100.3(EFHC1):c.911A>G (p.Asn304Ser) rs142107827
NM_018100.3(EFHC1):c.915A>G (p.Ala305=) rs1060503381
NM_018100.3(EFHC1):c.916A>G (p.Lys306Glu) rs201263733
NM_018100.3(EFHC1):c.97T>C (p.Tyr33His) rs374402088

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