ClinVar Miner

List of variants in gene HCFC1 studied for not specified

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Gene type:
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Total variants: 112
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HGVS dbSNP
NM_005334.3(HCFC1):c.-25C>G rs781965630
NM_005334.3(HCFC1):c.1084+18G>T rs782811477
NM_005334.3(HCFC1):c.1084+8C>T rs367698803
NM_005334.3(HCFC1):c.1085-12G>A rs3027893
NM_005334.3(HCFC1):c.1085-16C>G rs201181843
NM_005334.3(HCFC1):c.1119A>G (p.Val373=) rs782547175
NM_005334.3(HCFC1):c.1122C>T (p.Arg374=) rs781840891
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met) rs782047045
NM_005334.3(HCFC1):c.1251C>T (p.Val417=) rs1557116313
NM_005334.3(HCFC1):c.1445-14C>T rs184593569
NM_005334.3(HCFC1):c.1461C>T (p.Leu487=) rs1557116102
NM_005334.3(HCFC1):c.1472G>T (p.Gly491Val) rs1057524819
NM_005334.3(HCFC1):c.1560C>T (p.Pro520=) rs201117046
NM_005334.3(HCFC1):c.1605+16T>G rs375698764
NM_005334.3(HCFC1):c.1605+20G>T rs1002679
NM_005334.3(HCFC1):c.1692A>G (p.Ala564=) rs1557115878
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=) rs199916332
NM_005334.3(HCFC1):c.1728C>T (p.Ile576=) rs1557115850
NM_005334.3(HCFC1):c.1804-18C>T rs1057522797
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=) rs200081632
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=) rs145183787
NM_005334.3(HCFC1):c.2352G>A (p.Thr784=) rs782058954
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=) rs782244636
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=) rs371411952
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=) rs375755315
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=) rs782757775
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=) rs369241538
NM_005334.3(HCFC1):c.2636-16G>T rs782607911
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=) rs368119827
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=) rs374223163
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=) rs200003914
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=) rs782349400
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106
NM_005334.3(HCFC1):c.2856+15G>A rs1286532435
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) rs3027883
NM_005334.3(HCFC1):c.3018T>C (p.Pro1006=) rs782300483
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=) rs200145247
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=) rs782501125
NM_005334.3(HCFC1):c.3255G>A (p.Thr1085=) rs782017804
NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=) rs782332238
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751
NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=) rs868910589
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=) rs200577062
NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=) rs1053320929
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260
NM_005334.3(HCFC1):c.3504C>G (p.Thr1168=) rs782207714
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427
NM_005334.3(HCFC1):c.3585G>A (p.Pro1195=) rs1204221011
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=) rs3027882
NM_005334.3(HCFC1):c.3636C>T (p.Ala1212=) rs1557114069
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=) rs782484757
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys) rs199554411
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179
NM_005334.3(HCFC1):c.380C>T (p.Thr127Met) rs183246703
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=) rs372301724
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=) rs375212345
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=) rs782766895
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=) rs377467572
NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=) rs782457287
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087
NM_005334.3(HCFC1):c.4089T>C (p.Thr1363=) rs782162129
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926
NM_005334.3(HCFC1):c.4182G>A (p.Ala1394=) rs782820533
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133
NM_005334.3(HCFC1):c.4218G>A (p.Ala1406=) rs782670703
NM_005334.3(HCFC1):c.4275C>T (p.His1425=) rs782707963
NM_005334.3(HCFC1):c.4333+11G>T rs1557113474
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) rs141722238
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg) rs782407440
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005334.3(HCFC1):c.4594G>A (p.Ala1532Thr) rs782665288
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile) rs781788935
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=) rs372900932
NM_005334.3(HCFC1):c.4722A>C (p.Pro1574=) rs1557112957
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572
NM_005334.3(HCFC1):c.4881G>A (p.Thr1627=) rs368086196
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=) rs374047752
NM_005334.3(HCFC1):c.4942+9C>T rs782480118
NM_005334.3(HCFC1):c.503+14C>G rs371163886
NM_005334.3(HCFC1):c.503+3G>A rs1557117748
NM_005334.3(HCFC1):c.5260+17G>C rs201426831
NM_005334.3(HCFC1):c.5261-17A>G rs782143370
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) rs782384589
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) rs377035512
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=) rs1057521778
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876
NM_005334.3(HCFC1):c.5517+16T>A rs782354980
NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=) rs782063013
NM_005334.3(HCFC1):c.5528G>C (p.Gly1843Ala) rs797045609
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) rs144160012
NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=) rs782064674
NM_005334.3(HCFC1):c.5808C>T (p.Gly1936=) rs782369645
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875
NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=) rs372071273
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) rs149729439
NM_005334.3(HCFC1):c.6004+14G>A rs371228352
NM_005334.3(HCFC1):c.6005-12C>G rs181583112
NM_005334.3(HCFC1):c.6005-12C>T rs181583112
NM_005334.3(HCFC1):c.6005-18C>G rs781820710
NM_005334.3(HCFC1):c.713-13C>T rs59607260
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) rs372516617
NM_005334.3(HCFC1):c.905-3C>T rs200367055
NM_005334.3(HCFC1):c.984C>T (p.Val328=) rs782409511

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