ClinVar Miner

List of variants in gene EFHC1 reported as uncertain significance for not provided

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638 0.00059
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=) rs145194882 0.00024
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.911A>G (p.Asn304Ser) rs142107827 0.00019
NM_018100.4(EFHC1):c.1369C>T (p.Arg457Cys) rs373196171 0.00015
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp) rs527295360 0.00013
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu) rs369926953 0.00012
NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu) rs369468811 0.00010
NM_018100.4(EFHC1):c.484C>T (p.His162Tyr) rs112800954 0.00010
NM_018100.4(EFHC1):c.731G>A (p.Arg244Gln) rs140476054 0.00010
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr) rs200116252 0.00009
NM_018100.4(EFHC1):c.574G>A (p.Val192Ile) rs781665913 0.00009
NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln) rs377732929 0.00008
NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys) rs574948354 0.00008
NM_018100.4(EFHC1):c.266A>G (p.His89Arg) rs543160745 0.00008
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721 0.00008
NM_018100.4(EFHC1):c.89C>T (p.Thr30Met) rs200435907 0.00008
NM_018100.4(EFHC1):c.344A>G (p.Tyr115Cys) rs371610025 0.00007
NM_018100.4(EFHC1):c.1306C>T (p.Arg436Cys) rs377286138 0.00006
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 0.00006
NM_018100.4(EFHC1):c.1852-6C>G rs372507832 0.00006
NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser) rs142458862 0.00006
NM_018100.4(EFHC1):c.1907G>A (p.Arg636His) rs745406233 0.00006
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp) rs374661645 0.00004
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp) rs371151471 0.00003
NM_018100.4(EFHC1):c.1639A>G (p.Ser547Gly) rs759767484 0.00003
NM_018100.4(EFHC1):c.1765G>A (p.Glu589Lys) rs201197637 0.00003
NM_018100.4(EFHC1):c.352C>T (p.Arg118Cys) rs764096785 0.00003
NM_018100.4(EFHC1):c.668A>G (p.Tyr223Cys) rs1307612935 0.00003
NM_018100.4(EFHC1):c.724-14T>A rs756262882 0.00003
NM_018100.4(EFHC1):c.1280A>G (p.Glu427Gly) rs756563341 0.00002
NM_018100.4(EFHC1):c.1454A>G (p.Tyr485Cys) rs534797617 0.00002
NM_018100.4(EFHC1):c.1814C>T (p.Ser605Leu) rs373267174 0.00002
NM_018100.4(EFHC1):c.19C>G (p.His7Asp) rs796052419 0.00002
NM_018100.4(EFHC1):c.77A>C (p.His26Pro) rs548766587 0.00002
NM_018100.4(EFHC1):c.1182del (p.Gln395fs) rs753549012 0.00001
NM_018100.4(EFHC1):c.1187A>G (p.Asn396Ser) rs745982377 0.00001
NM_018100.4(EFHC1):c.1262G>A (p.Arg421His) rs778852957 0.00001
NM_018100.4(EFHC1):c.140T>A (p.Ile47Lys) rs368839861 0.00001
NM_018100.4(EFHC1):c.1547T>C (p.Met516Thr) rs372520849 0.00001
NM_018100.4(EFHC1):c.22G>C (p.Gly8Arg) rs200510672 0.00001
NM_018100.4(EFHC1):c.564A>G (p.Gln188=) rs766444850 0.00001
NM_018100.4(EFHC1):c.68C>T (p.Thr23Ile) rs779993809 0.00001
NM_018100.4(EFHC1):c.754A>G (p.Thr252Ala) rs1435544341 0.00001
NM_018100.4(EFHC1):c.916A>G (p.Lys306Glu) rs201263733 0.00001
NM_018100.4(EFHC1):c.1144C>T (p.Pro382Ser) rs566874147
NM_018100.4(EFHC1):c.1172A>G (p.Glu391Gly) rs796052417
NM_018100.4(EFHC1):c.1270G>T (p.Ala424Ser) rs796052418
NM_018100.4(EFHC1):c.1443C>A (p.Asn481Lys) rs186911667
NM_018100.4(EFHC1):c.1444C>G (p.Pro482Ala) rs2114023716
NM_018100.4(EFHC1):c.1763A>G (p.Lys588Arg) rs1554262192
NM_018100.4(EFHC1):c.499del (p.Asp167fs)
NM_018100.4(EFHC1):c.63+2T>C rs796052420
NM_018100.4(EFHC1):c.680C>T (p.Ser227Leu) rs796052412
NM_018100.4(EFHC1):c.682_692del (p.Asp228fs) rs775980459
NM_018100.4(EFHC1):c.810T>G (p.Asp270Glu) rs796052413
NM_018100.4(EFHC1):c.826C>G (p.Arg276Gly) rs796052414
NM_018100.4(EFHC1):c.84T>A (p.Ser28Arg) rs796052415
NM_018100.4(EFHC1):c.922T>A (p.Phe308Ile) rs796052416

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