ClinVar Miner

List of variants in gene EFHC1 reported by GeneDx

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Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_018100.4(EFHC1):c.*881A>T rs6926242 0.90714
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.1851+58T>C rs2273120 0.69438
NM_018100.4(EFHC1):c.286-180T>A rs9370122 0.32317
NM_018100.4(EFHC1):c.1278+100T>C rs62407897 0.18961
NM_018100.4(EFHC1):c.573+10A>G rs9349626 0.18650
NM_018100.4(EFHC1):c.63+123G>C rs12206743 0.18197
NM_018100.4(EFHC1):c.1492+175_1492+176del rs55987008 0.09578
NM_018100.4(EFHC1):c.*871C>G rs78956562 0.09084
NM_018100.4(EFHC1):c.917-118G>T rs3804502 0.09052
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787 0.07947
NM_018100.4(EFHC1):c.1640+77A>C rs515432 0.07945
NM_018100.4(EFHC1):c.286-54G>T rs539295 0.07944
NM_018100.4(EFHC1):c.1138-293del rs112649755 0.07937
NM_018100.4(EFHC1):c.917-183G>A rs16882561 0.07623
NM_018100.4(EFHC1):c.*1025A>C rs547999372 0.07191
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_018100.3(EFHC1):c.-195A>G rs2296196 0.04417
NM_018100.4(EFHC1):c.1851+226A>G rs2397091 0.04132
NM_018100.4(EFHC1):c.1851+279C>T rs72925221 0.03244
NM_018100.4(EFHC1):c.*1023A>C rs531389664 0.02945
NM_018100.4(EFHC1):c.*1044_*1045insA rs1554262447 0.01320
NM_018100.4(EFHC1):c.*1027A>C rs190868766 0.01316
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.1493-34C>T rs77741653 0.00605
NM_018100.4(EFHC1):c.1137+31G>T rs115160207 0.00595
NM_018100.4(EFHC1):c.1279-57G>T rs115736914 0.00594
NM_018100.4(EFHC1):c.917-72G>A rs114196074 0.00594
NC_000006.12:g.52420101A>G rs150082340 0.00588
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
NC_000006.12:g.52420332G>T rs114013470 0.00080
NM_018100.4(EFHC1):c.64-5T>C rs201860746 0.00063
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638 0.00059
NM_018100.4(EFHC1):c.97T>C (p.Tyr33His) rs374402088 0.00036
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.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.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.1338C>T (p.Thr446=) rs546464826 0.00006
NM_018100.4(EFHC1):c.1584C>T (p.Leu528=) rs774640110 0.00006
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191 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.1765G>A (p.Glu589Lys) rs201197637 0.00003
NM_018100.4(EFHC1):c.627T>C (p.Leu209=) rs141142186 0.00003
NM_018100.4(EFHC1):c.724-14T>A rs756262882 0.00003
NM_018100.4(EFHC1):c.1454A>G (p.Tyr485Cys) rs534797617 0.00002
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=) rs773385237 0.00002
NM_018100.4(EFHC1):c.19C>G (p.His7Asp) rs796052419 0.00002
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala) rs750899949 0.00002
NM_018100.4(EFHC1):c.1187A>G (p.Asn396Ser) rs745982377 0.00001
NM_018100.4(EFHC1):c.1278+15T>C rs376515287 0.00001
NM_018100.4(EFHC1):c.1547T>C (p.Met516Thr) rs372520849 0.00001
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588 0.00001
NM_018100.4(EFHC1):c.22G>C (p.Gly8Arg) rs200510672 0.00001
NM_018100.4(EFHC1):c.547G>A (p.Val183Ile) rs769591944 0.00001
NM_018100.4(EFHC1):c.68C>T (p.Thr23Ile) rs779993809 0.00001
GRCh37/hg19 6p12.2(chr6:52302945-52319369)x3
NC_000006.12:g.52419923G>C rs492153
NM_018100.3(EFHC1):c.-148_-147GC[1] rs796720054
NM_018100.4(EFHC1):c.*1045_*1046insATATATATATATA rs60720755
NM_018100.4(EFHC1):c.*140C>T rs78906153
NM_018100.4(EFHC1):c.-13G>A rs1057520834
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.1314del (p.Phe438fs) rs796052421
NM_018100.4(EFHC1):c.1443C>A (p.Asn481Lys) rs186911667
NM_018100.4(EFHC1):c.1763A>G (p.Lys588Arg) rs1554262192
NM_018100.4(EFHC1):c.1852-48G>T rs60636755
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.63+2T>C rs796052420
NM_018100.4(EFHC1):c.64-158G>C rs62407871
NM_018100.4(EFHC1):c.64-262del rs59383268
NM_018100.4(EFHC1):c.680C>T (p.Ser227Leu) rs796052412
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.916+166C>T rs614570
NM_018100.4(EFHC1):c.922T>A (p.Phe308Ile) rs796052416
NM_018100.4(EFHC1):c.943A>T (p.Ile315Phe) rs1057521631

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