ClinVar Miner

List of variants in gene HCFC1 reported as likely benign by GeneDx

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Gene type:
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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_005334.3(HCFC1):c.193+185G>C rs1242163792 0.03214
NM_005334.3(HCFC1):c.712+222A>G rs147713593 0.00861
NM_005334.3(HCFC1):c.1605+106C>A rs191674201 0.00826
NM_005334.3(HCFC1):c.904+53C>G rs12008736 0.00796
NM_005334.3(HCFC1):c.2133+68T>C rs142362860 0.00474
NM_005334.3(HCFC1):c.*50G>A rs201770950 0.00418
NM_005334.3(HCFC1):c.713-269C>A rs782554267 0.00327
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) rs149729439 0.00292
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179 0.00156
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=) rs145183787 0.00118
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala) rs3027884 0.00099
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=) rs200003914 0.00083
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 0.00078
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00073
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.3290A>C (p.Asn1097Thr) rs201404751 0.00041
NM_005334.3(HCFC1):c.3903C>T (p.Thr1301=) rs375212345 0.00037
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) rs782384589 0.00037
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser) rs200053475 0.00034
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=) rs200577062 0.00034
NM_005334.3(HCFC1):c.2496+42C>T rs200046809 0.00033
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=) rs377467572 0.00031
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.4942+11G>A rs782730900 0.00018
NM_005334.3(HCFC1):c.1119A>G (p.Val373=) rs782547175 0.00016
NM_005334.3(HCFC1):c.1605+16T>G rs375698764 0.00014
NM_005334.3(HCFC1):c.1722C>T (p.Thr574=) rs199916332 0.00014
NM_005334.3(HCFC1):c.6005-18C>G rs781820710 0.00013
NM_005334.3(HCFC1):c.1606-13G>A rs782300809 0.00011
NM_005334.3(HCFC1):c.2352G>A (p.Thr784=) rs782058954 0.00010
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=) rs368119827 0.00010
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=) rs372900932 0.00010
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys) rs199554411 0.00009
NM_005334.3(HCFC1):c.1085-16C>G rs201181843 0.00008
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=) rs375755315 0.00008
NM_005334.3(HCFC1):c.380C>T (p.Thr127Met) rs183246703 0.00007
NM_005334.3(HCFC1):c.3504C>G (p.Thr1168=) rs782207714 0.00006
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=) rs374047752 0.00006
NM_005334.3(HCFC1):c.1407C>T (p.Gly469=) rs200268397 0.00005
NM_005334.3(HCFC1):c.1560C>T (p.Pro520=) rs201117046 0.00005
NM_005334.3(HCFC1):c.1804-18C>T rs1057522797 0.00005
NM_005334.3(HCFC1):c.2134-20C>A rs368718262 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.5949C>T (p.Ile1983=) rs372071273 0.00005
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.2817A>T (p.Thr939=) rs782349400 0.00003
NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=) rs782457287 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.3231C>T (p.Asn1077=) rs1206319692 0.00002
NM_005334.3(HCFC1):c.3975C>T (p.His1325=) rs373289538 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.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.1472G>T (p.Gly491Val) rs1057524819 0.00001
NM_005334.3(HCFC1):c.1728C>T (p.Ile576=) rs1557115850 0.00001
NM_005334.3(HCFC1):c.2029-17C>T rs1184396495 0.00001
NM_005334.3(HCFC1):c.2636-16G>T rs782607911 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.4881G>A (p.Thr1627=) rs368086196 0.00001
NM_005334.3(HCFC1):c.4942+9C>T rs782480118 0.00001
NM_005334.3(HCFC1):c.1084+18G>T rs782811477
NM_005334.3(HCFC1):c.2353+22T>C rs201040458
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=) rs782757775
NM_005334.3(HCFC1):c.2856+15G>A rs1286532435
NM_005334.3(HCFC1):c.3018T>C (p.Pro1006=) rs782300483
NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=) rs868910589
NM_005334.3(HCFC1):c.3636C>T (p.Ala1212=) rs1557114069
NM_005334.3(HCFC1):c.503+3G>A rs1557117748
NM_005334.3(HCFC1):c.5260+17G>C rs201426831
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=) rs1057521778
NM_005334.3(HCFC1):c.5703+70dup rs377247620
NM_005334.3(HCFC1):c.6005-12C>G rs181583112

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