ClinVar Miner

List of variants in gene HCFC1 reported by Invitae

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Total variants: 86
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HGVS dbSNP
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.1427C>T (p.Thr476Ile)
NM_005334.3(HCFC1):c.1698G>A (p.Thr566=)
NM_005334.3(HCFC1):c.1803+7G>A
NM_005334.3(HCFC1):c.1842C>T (p.Ala614=)
NM_005334.3(HCFC1):c.1980C>T (p.Thr660=)
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=)
NM_005334.3(HCFC1):c.2029-9C>G
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=) rs1557115422
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=) rs145183787
NM_005334.3(HCFC1):c.2316C>T (p.Ile772=)
NM_005334.3(HCFC1):c.2346C>T (p.Gly782=)
NM_005334.3(HCFC1):c.237C>A (p.Pro79=)
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151
NM_005334.3(HCFC1):c.2436G>A (p.Ala812=)
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=)
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=)
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.2872A>G (p.Thr958Ala) rs3027884
NM_005334.3(HCFC1):c.2973C>T (p.Thr991=)
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr) rs200997332
NM_005334.3(HCFC1):c.3103G>C (p.Ala1035Pro)
NM_005334.3(HCFC1):c.3180G>T (p.Val1060=)
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=)
NM_005334.3(HCFC1):c.3255G>A (p.Thr1085=) rs782017804
NM_005334.3(HCFC1):c.3279C>T (p.Thr1093=)
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=)
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.3459T>C (p.Thr1153=)
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu)
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427
NM_005334.3(HCFC1):c.3579T>C (p.Leu1193=)
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=) rs3027882
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.3853G>A (p.Val1285Met) rs199611189
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=) rs375212345
NM_005334.3(HCFC1):c.3930A>T (p.Ala1310=)
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=)
NM_005334.3(HCFC1):c.4026G>A (p.Thr1342=)
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu)
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met)
NM_005334.3(HCFC1):c.4125C>T (p.Ala1375=)
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
NM_005334.3(HCFC1):c.4158C>T (p.Thr1386=)
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.4218G>A (p.Ala1406=) rs782670703
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His)
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=)
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=)
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=)
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=)
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=)
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.4626G>A (p.Glu1542=) rs372900932
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met)
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=)
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=)
NM_005334.3(HCFC1):c.504-9C>T
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.5391_5393GCC[1] (p.Pro1801del)
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=)
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=)
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) rs144160012
NM_005334.3(HCFC1):c.5613C>T (p.Ala1871=)
NM_005334.3(HCFC1):c.5769C>T (p.Tyr1923=)
NM_005334.3(HCFC1):c.5784C>T (p.Ala1928=)
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=)
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) rs149729439
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=) rs199953428
NM_005334.3(HCFC1):c.6069-4C>T
NM_005334.3(HCFC1):c.648C>G (p.Ser216=)
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) rs372516617

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