ClinVar Miner

List of variants in gene HCFC1 studied for classic organic aciduria

Included ClinVar conditions (39):
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Gene type:
ClinVar version:
Total variants: 147
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HGVS dbSNP
NM_005334.3(HCFC1):c.-970T>C rs398122908
NM_005334.3(HCFC1):c.1029C>T (p.Tyr343=)
NM_005334.3(HCFC1):c.1030C>T (p.Arg344Cys)
NM_005334.3(HCFC1):c.1085-12G>A rs3027893
NM_005334.3(HCFC1):c.1113A>G (p.Gln371=)
NM_005334.3(HCFC1):c.1119A>G (p.Val373=) rs782547175
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met)
NM_005334.3(HCFC1):c.138G>C (p.Val46=)
NM_005334.3(HCFC1):c.1398G>A (p.Thr466=)
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile) rs782364666
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359
NM_005334.3(HCFC1):c.1689G>A (p.Ser563=)
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met)
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=) rs202099968
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=) rs199916332
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=) rs377463848
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888
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.2196C>T (p.Pro732=)
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.2313C>T (p.Thr771=) rs145183787
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151
NM_005334.3(HCFC1):c.2475C>T (p.His825=)
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=) rs1603296223
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.2628C>T (p.Gly876=)
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=) rs782558280
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile)
NM_005334.3(HCFC1):c.2685C>T (p.Ala895=)
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.2859C>T (p.Pro953=)
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.2973C>T (p.Thr991=) rs1557114580
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr) rs200997332
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=) rs200145247
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met) rs190844812
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=) rs375223452
NM_005334.3(HCFC1):c.3249C>T (p.His1083=)
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp)
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr)
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=) rs782099695
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=) rs200577062
NM_005334.3(HCFC1):c.3399A>G (p.Arg1133=)
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp)
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val) rs397515485
NM_005334.3(HCFC1):c.3459T>C (p.Thr1153=) rs1259347673
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.3495G>C (p.Gln1165His)
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu) rs782473277
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=) rs3027882
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr)
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His) rs201578135
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys)
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys) rs199554411
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile)
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala)
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179
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.3943A>C (p.Arg1315=) rs782766895
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=) rs781889604
NM_005334.3(HCFC1):c.3960G>A (p.Pro1320=)
NM_005334.3(HCFC1):c.4017C>T (p.Asn1339=)
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu) rs1557113656
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met) rs782410390
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) rs781783048
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133
NM_005334.3(HCFC1):c.4195G>A (p.Val1399Ile)
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His) rs1004412459
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=) rs782660801
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=) rs782771916
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=) rs782566624
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=) rs781802693
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr)
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=) rs781804858
NM_005334.3(HCFC1):c.4308C>T (p.Val1436=)
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His) rs782138046
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly)
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala)
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.4499C>T (p.Pro1500Leu)
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu)
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.4548A>T (p.Pro1516=)
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=) rs372900932
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser)
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met) rs368279501
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile)
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=) rs782660181
NM_005334.3(HCFC1):c.477C>T (p.Ser159=)
NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val)
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=) rs782313635
NM_005334.3(HCFC1):c.4942+8C>T
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) rs1275942023
NM_005334.3(HCFC1):c.503+14C>G rs371163886
NM_005334.3(HCFC1):c.504-9C>T rs781961920
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg) rs869312686
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met)
NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=)
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr)
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) rs782384589
NM_005334.3(HCFC1):c.5289C>T (p.Ala1763=)
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) rs377035512
NM_005334.3(HCFC1):c.5379+20G>A
NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del) rs782769309
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=) rs201452496
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg)
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg)
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala)
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=) rs376294666
NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=)
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) rs144160012
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly)
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=) rs377138805
NM_005334.3(HCFC1):c.5823C>G (p.Ser1941=)
NM_005334.3(HCFC1):c.5848C>A (p.Arg1950=)
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) rs149729439
NM_005334.3(HCFC1):c.6009C>T (p.Thr2003=)
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile)
NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) rs318240758
NM_005334.3(HCFC1):c.712+6C>T
NM_005334.3(HCFC1):c.713-13C>T rs59607260
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) rs372516617
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg)
NM_005334.3(HCFC1):c.905-3C>T rs200367055

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