ClinVar Miner

List of variants in gene HCFC1 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_005334.3(HCFC1):c.5704-42C>T rs2071132 0.37683
NM_005334.3(HCFC1):c.797+247T>C rs17422 0.37668
NM_005334.3(HCFC1):c.713-13C>T rs59607260 0.19358
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_005334.3(HCFC1):c.1085-22C>G rs17421 0.19150
NM_005334.3(HCFC1):c.342+116T>C rs12392452 0.17925
NM_005334.3(HCFC1):c.712+69G>A rs12388844 0.17824
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878 0.16009
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_005334.3(HCFC1):c.2029-49C>T rs3027889 0.07284
NM_005334.3(HCFC1):c.713-101C>G rs58759385 0.06950
NM_005334.3(HCFC1):c.1804-145G>A rs7883972 0.06945
NM_005334.3(HCFC1):c.5380-38T>G rs2314659 0.05538
NM_005334.3(HCFC1):c.4333+91C>T rs3027881 0.05288
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) rs3027883 0.05020
NM_005334.3(HCFC1):c.1085-12G>A rs3027893 0.04847
NM_005334.3(HCFC1):c.2635+22C>T rs3027887 0.03890
NM_005334.3(HCFC1):c.5261-33A>C rs144179044 0.03678
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153 0.03363
NM_005334.3(HCFC1):c.6005-278C>T rs150536778 0.03349
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151 0.03295
NM_005334.3(HCFC1):c.1605+193C>T rs4509509 0.03261
NM_005334.3(HCFC1):c.2856+266G>A rs3027885 0.03242
NM_005334.3(HCFC1):c.2856+74C>T rs3027886 0.03067
NM_005334.3(HCFC1):c.2856+304C>T rs762654 0.03006
NM_005334.3(HCFC1):c.*293C>T rs190463296 0.02991
NM_005334.3(HCFC1):c.1605+20G>T rs1002679 0.02967
NM_005334.3(HCFC1):c.1606-260G>A rs3027891 0.02428
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427 0.01804
NM_005334.3(HCFC1):c.503+98C>T rs143401013 0.01721
NM_005334.3(HCFC1):c.343-37C>T rs151314872 0.01631
NM_005334.3(HCFC1):c.1445-41G>A rs3027892 0.01617
NM_005334.3(HCFC1):c.5261-41G>A rs3027876 0.01612
NM_005334.3(HCFC1):c.4497+304G>A rs150254396 0.01601
NM_005334.3(HCFC1):c.1445-14C>T rs184593569 0.00544
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=) rs3027882 0.00511
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888 0.00450
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572 0.00278
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087 0.00101
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926 0.00091
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) rs144160012 0.00076
NM_005334.3(HCFC1):c.6005-12C>T rs181583112

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