ClinVar Miner

List of variants in gene HCFC1 studied for not specified

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Gene type:
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Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_005334.3(HCFC1):c.713-13C>T rs59607260 0.19358
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878 0.16009
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) rs3027883 0.05020
NM_005334.3(HCFC1):c.1085-12G>A rs3027893 0.04847
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153 0.03363
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151 0.03295
NM_005334.3(HCFC1):c.1605+20G>T rs1002679 0.02967
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427 0.01804
NM_005334.3(HCFC1):c.1445-14C>T rs184593569 0.00544
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=) rs3027882 0.00511
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888 0.00450
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) rs149729439 0.00292
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572 0.00278
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179 0.00157
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=) rs145183787 0.00118
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087 0.00101
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884 0.00091
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751 0.00091
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926 0.00091
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=) rs200003914 0.00085
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 0.00078
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) rs144160012 0.00076
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00075
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) rs377035512 0.00071
NM_005334.3(HCFC1):c.503+14C>G rs371163886 0.00068
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) rs782384589 0.00040
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=) rs369241538 0.00038
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=) rs375212345 0.00037
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=) rs200577062 0.00034
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) rs372516617 0.00031
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=) rs200145247 0.00030
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=) rs377467572 0.00029
NM_005334.3(HCFC1):c.905-3C>T rs200367055 0.00019
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=) rs200081632 0.00015
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=) rs199916332 0.00014
NM_005334.3(HCFC1):c.1119A>G (p.Val373=) rs782547175 0.00013
NM_005334.3(HCFC1):c.1605+16T>G rs375698764 0.00013
NM_005334.3(HCFC1):c.6005-18C>G rs781820710 0.00013
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=) rs782484757 0.00012
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=) rs372900932 0.00011
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=) rs368119827 0.00010
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) rs782727601 0.00010
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=) rs375755315 0.00009
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=) rs376294666 0.00009
NM_005334.3(HCFC1):c.1122C>T (p.Arg374=) rs781840891 0.00008
NM_005334.3(HCFC1):c.1085-16C>G rs201181843 0.00007
NM_005334.3(HCFC1):c.2352G>A (p.Thr784=) rs782058954 0.00007
NM_005334.3(HCFC1):c.380C>T (p.Thr127Met) rs183246703 0.00007
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=) rs374047752 0.00007
NM_005334.3(HCFC1):c.1084+8C>T rs367698803 0.00006
NM_005334.3(HCFC1):c.3504C>G (p.Thr1168=) rs782207714 0.00006
NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=) rs372071273 0.00006
NM_005334.3(HCFC1):c.1560C>T (p.Pro520=) rs201117046 0.00005
NM_005334.3(HCFC1):c.1716G>A (p.Ala572=) rs371233332 0.00005
NM_005334.3(HCFC1):c.1804-18C>T rs1057522797 0.00005
NM_005334.3(HCFC1):c.3255G>A (p.Thr1085=) rs782017804 0.00005
NM_005334.3(HCFC1):c.4218G>A (p.Ala1406=) rs782670703 0.00005
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=) rs782501125 0.00004
NM_005334.3(HCFC1):c.4182G>A (p.Ala1394=) rs782820533 0.00004
NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=) rs782064674 0.00004
NM_005334.3(HCFC1):c.5808C>T (p.Gly1936=) rs782369645 0.00004
NM_005334.3(HCFC1):c.6004+14G>A rs371228352 0.00004
NM_005334.3(HCFC1):c.984C>T (p.Val328=) rs782409511 0.00004
NM_005334.3(HCFC1):c.1214C>T (p.Thr405Met) rs782047045 0.00003
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=) rs372301724 0.00003
NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=) rs782457287 0.00003
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His) rs111385795 0.00003
NM_005334.3(HCFC1):c.-25C>G rs781965630 0.00002
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=) rs782244636 0.00002
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=) rs371411952 0.00002
NM_005334.3(HCFC1):c.2856+15G>A rs1286532435 0.00002
NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=) rs782332238 0.00002
NM_005334.3(HCFC1):c.4089T>C (p.Thr1363=) rs782162129 0.00002
NM_005334.3(HCFC1):c.4275C>T (p.His1425=) rs782707963 0.00002
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile) rs781788935 0.00002
NM_005334.3(HCFC1):c.5261-17A>G rs782143370 0.00002
NM_005334.3(HCFC1):c.5517+16T>A rs782354980 0.00002
NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=) rs782063013 0.00002
NM_005334.3(HCFC1):c.1692A>G (p.Ala564=) rs1557115878 0.00001
NM_005334.3(HCFC1):c.1728C>T (p.Ile576=) rs1557115850 0.00001
NM_005334.3(HCFC1):c.2636-16G>T rs782607911 0.00001
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=) rs374223163 0.00001
NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=) rs868910589 0.00001
NM_005334.3(HCFC1):c.3585G>A (p.Pro1195=) rs1204221011 0.00001
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=) rs782766895 0.00001
NM_005334.3(HCFC1):c.4333+11G>T rs1557113474 0.00001
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile) rs935130398 0.00001
NM_005334.3(HCFC1):c.4881G>A (p.Thr1627=) rs368086196 0.00001
NM_005334.3(HCFC1):c.4942+9C>T rs782480118 0.00001
NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=) rs2065298662 0.00001
NM_005334.3(HCFC1):c.1023C>T (p.Asp341=)
NM_005334.3(HCFC1):c.1084+18G>T rs782811477
NM_005334.3(HCFC1):c.1251C>T (p.Val417=) rs1557116313
NM_005334.3(HCFC1):c.1461C>T (p.Leu487=) rs1557116102
NM_005334.3(HCFC1):c.1520G>A (p.Ser507Asn)
NM_005334.3(HCFC1):c.193+16G>T
NM_005334.3(HCFC1):c.237C>A (p.Pro79=) rs782481466
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=) rs782757775
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=) rs782349400
NM_005334.3(HCFC1):c.3018T>C (p.Pro1006=) rs782300483
NM_005334.3(HCFC1):c.3337G>C (p.Glu1113Gln) rs782066012
NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=) rs1053320929
NM_005334.3(HCFC1):c.3636C>T (p.Ala1212=) rs1557114069
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)
NM_005334.3(HCFC1):c.3858C>T (p.Thr1286=) rs1475324456
NM_005334.3(HCFC1):c.4203C>G (p.Pro1401=)
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.4722A>C (p.Pro1574=) rs1557112957
NM_005334.3(HCFC1):c.503+3G>A rs1557117748
NM_005334.3(HCFC1):c.5260+17G>C rs201426831
NM_005334.3(HCFC1):c.5287G>A (p.Ala1763Thr)
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=) rs1057521778
NM_005334.3(HCFC1):c.5379+8G>A
NM_005334.3(HCFC1):c.5528G>C (p.Gly1843Ala) rs797045609
NM_005334.3(HCFC1):c.6005-12C>G rs181583112
NM_005334.3(HCFC1):c.6005-12C>T rs181583112

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