List of variants in gene HCFC1 reported as uncertain significance by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 129

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys)	rs781949446	0.00007
NM_005334.3(HCFC1):c.3501A>C (p.Gln1167His)	rs1557114160	0.00003
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)	rs782010359	0.00002
NM_005334.3(HCFC1):c.2584G>A (p.Val862Ile)	rs1057524502	0.00002
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile)	rs781788935	0.00002
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val)	rs1002620023	0.00002
NM_005334.3(HCFC1):c.1396A>G (p.Thr466Ala)	rs782036937	0.00001
NM_005334.3(HCFC1):c.1416T>G (p.Ile472Met)	rs1176809105	0.00001
NM_005334.3(HCFC1):c.1520G>A (p.Ser507Asn)	rs1557116079	0.00001
NM_005334.3(HCFC1):c.1537C>G (p.Pro513Ala)	rs1557116071	0.00001
NM_005334.3(HCFC1):c.2863T>A (p.Ser955Thr)	rs2065366637	0.00001
NM_005334.3(HCFC1):c.3254C>T (p.Thr1085Met)	rs782166269	0.00001
NM_005334.3(HCFC1):c.3337G>A (p.Glu1113Lys)	rs782066012	0.00001
NM_005334.3(HCFC1):c.3344G>T (p.Gly1115Val)	rs370928756	0.00001
NM_005334.3(HCFC1):c.3353A>G (p.Asn1118Ser)	rs781947353	0.00001
NM_005334.3(HCFC1):c.3749G>C (p.Gly1250Ala)	rs1327306478	0.00001
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met)	rs782467999	0.00001
NM_005334.3(HCFC1):c.5012C>T (p.Ser1671Leu)	rs1279604378	0.00001
NM_005334.3(HCFC1):c.5173G>A (p.Asp1725Asn)	rs782352023	0.00001
NM_005334.3(HCFC1):c.5528G>C (p.Gly1843Ala)	rs797045609	0.00001
NM_005334.3(HCFC1):c.5533G>A (p.Val1845Ile)	rs1400195721	0.00001
NM_005334.3(HCFC1):c.5764G>C (p.Glu1922Gln)	rs1557112154	0.00001
NM_005334.3(HCFC1):c.5923A>C (p.Thr1975Pro)	rs1557112090	0.00001
NM_005334.3(HCFC1):c.6061C>T (p.Pro2021Ser)	rs1557111884	0.00001
NM_005334.3(HCFC1):c.979G>T (p.Ala327Ser)	rs782659828	0.00001
NM_005334.3(HCFC1):c.985G>A (p.Ala329Thr)	rs1557116478	0.00001
NM_005334.3(HCFC1):c.1031G>A (p.Arg344His)	rs2148589382
NM_005334.3(HCFC1):c.109C>T (p.Arg37Cys)	rs2521819335
NM_005334.3(HCFC1):c.1120C>T (p.Arg374Cys)	rs1557116360
NM_005334.3(HCFC1):c.1121G>A (p.Arg374His)
NM_005334.3(HCFC1):c.1232C>T (p.Ser411Phe)	rs782297889
NM_005334.3(HCFC1):c.1238C>T (p.Thr413Ile)
NM_005334.3(HCFC1):c.1250T>C (p.Val417Ala)
NM_005334.3(HCFC1):c.1285G>A (p.Ala429Thr)
NM_005334.3(HCFC1):c.1447G>A (p.Val483Ile)
NM_005334.3(HCFC1):c.1474C>T (p.Pro492Ser)
NM_005334.3(HCFC1):c.1480G>C (p.Ala494Pro)
NM_005334.3(HCFC1):c.1534G>T (p.Ala512Ser)	rs782426174
NM_005334.3(HCFC1):c.1642G>A (p.Ala548Thr)	rs2521639460
NM_005334.3(HCFC1):c.1644_1652del (p.Leu549_Ala551del)
NM_005334.3(HCFC1):c.1651G>A (p.Ala551Thr)	rs2148585058
NM_005334.3(HCFC1):c.1706G>T (p.Ser569Ile)
NM_005334.3(HCFC1):c.1753G>A (p.Gly585Ser)
NM_005334.3(HCFC1):c.1789T>G (p.Ser597Ala)	rs2148584632
NM_005334.3(HCFC1):c.17C>T (p.Ser6Leu)	rs2521820962
NM_005334.3(HCFC1):c.1852G>A (p.Gly618Arg)	rs2521629387
NM_005334.3(HCFC1):c.1894A>G (p.Ile632Val)	rs2065395979
NM_005334.3(HCFC1):c.1903G>C (p.Val635Leu)	rs2148583591
NM_005334.3(HCFC1):c.1925C>T (p.Thr642Ile)	rs2148583568
NM_005334.3(HCFC1):c.200A>G (p.Asn67Ser)
NM_005334.3(HCFC1):c.2029-7_2029-6insTAA	rs1383257179
NM_005334.3(HCFC1):c.2066C>T (p.Thr689Ile)	rs2521623201
NM_005334.3(HCFC1):c.2144C>T (p.Pro715Leu)	rs1557115452
NM_005334.3(HCFC1):c.2182G>T (p.Ala728Ser)
NM_005334.3(HCFC1):c.2213C>T (p.Thr738Ile)	rs2148581588
NM_005334.3(HCFC1):c.2216C>T (p.Thr739Met)
NM_005334.3(HCFC1):c.2231C>T (p.Ala744Val)	rs2065388763
NM_005334.3(HCFC1):c.2456C>G (p.Pro819Arg)	rs2521604549
NM_005334.3(HCFC1):c.2512G>A (p.Ala838Thr)
NM_005334.3(HCFC1):c.2539C>T (p.Arg847Cys)
NM_005334.3(HCFC1):c.2540G>A (p.Arg847His)
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala)	rs1131691855
NM_005334.3(HCFC1):c.2636-5_2723delinsACCTT	rs2521589450
NM_005334.3(HCFC1):c.2684C>T (p.Ala895Val)	rs2148578314
NM_005334.3(HCFC1):c.2695G>A (p.Gly899Ser)
NM_005334.3(HCFC1):c.2924A>G (p.His975Arg)
NM_005334.3(HCFC1):c.2945T>C (p.Leu982Pro)	rs2521570151
NM_005334.3(HCFC1):c.2992G>A (p.Asp998Asn)	rs1557114563
NM_005334.3(HCFC1):c.3104C>G (p.Ala1035Gly)	rs2148574909
NM_005334.3(HCFC1):c.3122C>T (p.Pro1041Leu)	rs2148574823
NM_005334.3(HCFC1):c.3220G>A (p.Val1074Ile)
NM_005334.3(HCFC1):c.3224G>A (p.Cys1075Tyr)
NM_005334.3(HCFC1):c.3294G>A (p.Met1098Ile)	rs1266924397
NM_005334.3(HCFC1):c.3305A>C (p.His1102Pro)
NM_005334.3(HCFC1):c.3371T>C (p.Met1124Thr)	rs1359129735
NM_005334.3(HCFC1):c.3422C>G (p.Ala1141Gly)	rs2521556395
NM_005334.3(HCFC1):c.3428C>T (p.Thr1143Ile)
NM_005334.3(HCFC1):c.350G>A (p.Arg117Gln)
NM_005334.3(HCFC1):c.3527C>T (p.Thr1176Ile)
NM_005334.3(HCFC1):c.3681C>G (p.Asp1227Glu)	rs1557114040
NM_005334.3(HCFC1):c.3752A>G (p.Glu1251Gly)	rs2521546037
NM_005334.3(HCFC1):c.3812C>T (p.Thr1271Ile)	rs2065352575
NM_005334.3(HCFC1):c.3842C>A (p.Pro1281His)
NM_005334.3(HCFC1):c.3866G>A (p.Cys1289Tyr)	rs2148571236
NM_005334.3(HCFC1):c.3868T>C (p.Ser1290Pro)	rs782420539
NM_005334.3(HCFC1):c.4016A>C (p.Asn1339Thr)	rs2148570407
NM_005334.3(HCFC1):c.4097_4099del (p.Gly1366_Thr1367delinsAla)	rs782203779
NM_005334.3(HCFC1):c.4202C>T (p.Pro1401Leu)
NM_005334.3(HCFC1):c.4237_4239dup (p.Thr1413_Gln1414insThr)	rs2065344629
NM_005334.3(HCFC1):c.4297G>A (p.Ala1433Thr)
NM_005334.3(HCFC1):c.4366G>T (p.Val1456Leu)	rs2148567503
NM_005334.3(HCFC1):c.4498-10C>T
NM_005334.3(HCFC1):c.4585G>A (p.Gly1529Arg)
NM_005334.3(HCFC1):c.4598A>G (p.Glu1533Gly)	rs2521501008
NM_005334.3(HCFC1):c.4609G>A (p.Ala1537Thr)
NM_005334.3(HCFC1):c.4613C>T (p.Ser1538Phe)	rs2521500799
NM_005334.3(HCFC1):c.4621C>T (p.Pro1541Ser)
NM_005334.3(HCFC1):c.4737G>T (p.Gln1579His)	rs2521497920
NM_005334.3(HCFC1):c.4780G>A (p.Glu1594Lys)	rs1466759880
NM_005334.3(HCFC1):c.4807A>G (p.Met1603Val)	rs2148563210
NM_005334.3(HCFC1):c.4925_4936del (p.Ala1642_Ala1645del)	rs2521494237
NM_005334.3(HCFC1):c.4969G>A (p.Glu1657Lys)	rs868930050
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del)	rs1275942023
NM_005334.3(HCFC1):c.5167C>G (p.Leu1723Val)
NM_005334.3(HCFC1):c.5171A>G (p.Asn1724Ser)	rs2521477947
NM_005334.3(HCFC1):c.524T>C (p.Ile175Thr)
NM_005334.3(HCFC1):c.5260+4A>G	rs2521474967
NM_005334.3(HCFC1):c.5287G>A (p.Ala1763Thr)	rs2521470597
NM_005334.3(HCFC1):c.5332G>A (p.Ala1778Thr)
NM_005334.3(HCFC1):c.5341C>G (p.Leu1781Val)	rs2148559815
NM_005334.3(HCFC1):c.5354C>T (p.Ala1785Val)	rs2521468669
NM_005334.3(HCFC1):c.5537C>G (p.Pro1846Arg)	rs1466664115
NM_005334.3(HCFC1):c.5539G>A (p.Asp1847Asn)	rs2521453844
NM_005334.3(HCFC1):c.5593C>T (p.Arg1865Cys)
NM_005334.3(HCFC1):c.5615G>A (p.Cys1872Tyr)
NM_005334.3(HCFC1):c.5777A>T (p.Tyr1926Phe)	rs2148556516
NM_005334.3(HCFC1):c.5828C>G (p.Pro1943Arg)	rs374509773
NM_005334.3(HCFC1):c.5932G>A (p.Ala1978Thr)	rs2148556115
NM_005334.3(HCFC1):c.5944C>T (p.Arg1982Cys)	rs2521442026
NM_005334.3(HCFC1):c.5978C>T (p.Pro1993Leu)	rs2521441385
NM_005334.3(HCFC1):c.5997G>T (p.Trp1999Cys)	rs1064793145
NM_005334.3(HCFC1):c.6034C>G (p.Pro2012Ala)	rs2521430825
NM_005334.3(HCFC1):c.6068T>C (p.Met2023Thr)	rs2521430169
NM_005334.3(HCFC1):c.614C>G (p.Ala205Gly)	rs2521713396
NM_005334.3(HCFC1):c.628G>A (p.Glu210Lys)
NM_005334.3(HCFC1):c.742A>T (p.Ser248Cys)	rs782405518
NM_005334.3(HCFC1):c.745G>A (p.Gly249Arg)	rs2521698280
NM_005334.3(HCFC1):c.791G>C (p.Gly264Ala)	rs2148594367
NM_005334.3(HCFC1):c.932T>C (p.Met311Thr)	rs1317666410

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.