ClinVar Miner

List of variants in gene HCFC1

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Total variants: 174
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HGVS dbSNP
NM_005334.3(HCFC1):c.-25C>G rs781965630
NM_005334.3(HCFC1):c.-970T>C rs398122908
NM_005334.3(HCFC1):c.1047C>G (p.Asn349Lys) rs797044778
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.1085-22C>G
NM_005334.3(HCFC1):c.1102G>T (p.Ala368Ser) rs1557116375
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.1200T>C (p.Tyr400=) rs398124206
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.1407C>T (p.Gly469=)
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile)
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359
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.1606-13G>A
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.1741G>A (p.Ala581Thr) rs886044862
NM_005334.3(HCFC1):c.1781_1803+3delinsCA rs1064796833
NM_005334.3(HCFC1):c.1804-18C>T rs1057522797
NM_005334.3(HCFC1):c.2029-17C>T
NM_005334.3(HCFC1):c.2029-7_2029-6insTAA rs1383257179
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888
NM_005334.3(HCFC1):c.2134-20C>A
NM_005334.3(HCFC1):c.2144C>T (p.Pro715Leu) rs1557115452
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr) rs397515487
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=) rs1557115422
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.2542A>G (p.Thr848Ala) rs1131691855
NM_005334.3(HCFC1):c.2584G>A (p.Val862Ile) rs1057524502
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.2626G>A (p.Gly876Ser) rs200053475
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.2857-23CTC[2] rs886044899
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.2974G>A (p.Ala992Thr) rs200997332
NM_005334.3(HCFC1):c.2992G>A (p.Asp998Asn) rs1557114563
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.3231C>T (p.Asn1077=)
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.3344G>T (p.Gly1115Val) rs370928756
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) rs782727601
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=) rs200577062
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
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.3550G>A (p.Gly1184Arg) rs398124207
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu)
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.3695G>A (p.Arg1232His)
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.3829G>A (p.Ala1277Thr) rs1557113917
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=) rs372301724
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met) rs199611189
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys) rs781949446
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.3975C>T (p.His1325=)
NM_005334.3(HCFC1):c.3990C>T (p.Thr1330=) rs1329487679
NM_005334.3(HCFC1):c.4001C>T (p.Thr1334Ile) rs782370052
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.4086C>T (p.Thr1362=) rs1388599232
NM_005334.3(HCFC1):c.4089T>C (p.Thr1363=) rs782162129
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu)
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
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.4242G>C (p.Gln1414His)
NM_005334.3(HCFC1):c.4275C>T (p.His1425=) rs782707963
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046
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.4759C>T (p.Leu1587Phe) rs1557112939
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=)
NM_005334.3(HCFC1):c.4881G>A (p.Thr1627=) rs368086196
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val) rs1002620023
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=) rs374047752
NM_005334.3(HCFC1):c.4942+11G>A
NM_005334.3(HCFC1):c.4942+9C>T rs782480118
NM_005334.3(HCFC1):c.4947C>T (p.Thr1649=) rs1422949741
NM_005334.3(HCFC1):c.4969G>A (p.Glu1657Lys) rs868930050
NM_005334.3(HCFC1):c.4981A>G (p.Thr1661Ala)
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) rs1275942023
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met) rs782467999
NM_005334.3(HCFC1):c.503+14C>G rs371163886
NM_005334.3(HCFC1):c.503+3G>A rs1557117748
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg) rs869312686
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.5300T>G (p.Val1767Gly) rs1360396448
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=) rs1057521778
NM_005334.3(HCFC1):c.5374G>T (p.Gly1792Cys) rs878853049
NM_005334.3(HCFC1):c.5391_5393GCC[1] (p.Pro1801del)
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876
NM_005334.3(HCFC1):c.5491C>T (p.Pro1831Ser) rs1131691718
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.5664T>G (p.Pro1888=) rs797044687
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.5860G>A (p.Gly1954Arg) rs797044886
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.5997G>T (p.Trp1999Cys) rs1064793145
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.6042C>T (p.Asn2014=) rs199953428
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) rs318240758
NM_005334.3(HCFC1):c.713-13C>T rs59607260
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) rs372516617
NM_005334.3(HCFC1):c.797+247T>C
NM_005334.3(HCFC1):c.905-3C>T rs200367055
NM_005334.3(HCFC1):c.984C>T (p.Val328=) rs782409511

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