ClinVar Miner

List of variants in gene FH reported as likely pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 137
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000143.4(FH):c.2T>G (p.Met1Arg) rs201261794 0.00002
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) rs200004220 0.00001
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys) rs863224010 0.00001
NM_000143.4(FH):c.151C>T (p.Arg51Trp) rs778678782 0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly) rs145116688 0.00001
NM_000143.4(FH):c.1A>G (p.Met1Val) rs776806414 0.00001
NM_000143.4(FH):c.208G>A (p.Ala70Thr) rs587782207 0.00001
NM_000143.4(FH):c.405T>G (p.His135Gln) rs1298815479 0.00001
NM_000143.4(FH):c.514A>G (p.Lys172Glu) rs201154463 0.00001
NM_000143.4(FH):c.583A>G (p.Met195Val) rs1553341364 0.00001
NM_000143.4(FH):c.700A>G (p.Thr234Ala) rs372505976 0.00001
NM_000143.4(FH):c.817G>A (p.Ala273Thr) rs772190176 0.00001
NM_000143.4(FH):c.908T>C (p.Leu303Ser) rs201502246 0.00001
NM_000143.4(FH):c.914T>C (p.Phe305Ser) rs1439046582 0.00001
NM_000143.4(FH):c.923C>G (p.Ala308Gly) rs1057524385 0.00001
NC_000001.11:g.(?_241508593)_(241513723_?)del
NM_000143.4(FH):c.1000A>C (p.Ser334Arg) rs587782216
NM_000143.4(FH):c.1021G>A (p.Asp341Asn) rs11545655
NM_000143.4(FH):c.1083_1086del (p.Glu362fs) rs756469140
NM_000143.4(FH):c.1084G>A (p.Glu362Lys) rs121913119
NM_000143.4(FH):c.1104_1106delinsACT (p.Met368_Pro369delinsIleLeu) rs863223987
NM_000143.4(FH):c.1108+1G>T rs1057517734
NM_000143.4(FH):c.1109-1G>C rs1298313966
NM_000143.4(FH):c.1117A>G (p.Asn373Asp)
NM_000143.4(FH):c.1126C>T (p.Gln376Ter) rs398123160
NM_000143.4(FH):c.1144A>G (p.Met382Val) rs886039365
NM_000143.4(FH):c.1145T>C (p.Met382Thr) rs2147914987
NM_000143.4(FH):c.1146G>A (p.Met382Ile) rs863224006
NM_000143.4(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.4(FH):c.1157A>G (p.Gln386Arg) rs750447792
NM_000143.4(FH):c.1158A>C (p.Gln386His) rs2147914951
NM_000143.4(FH):c.1178C>T (p.Ala393Val)
NM_000143.4(FH):c.1205A>T (p.His402Leu) rs886039366
NM_000143.4(FH):c.1237-1G>C
NM_000143.4(FH):c.1237-1G>T rs1573878149
NM_000143.4(FH):c.1250T>G (p.Leu417Ter) rs1553340709
NM_000143.4(FH):c.1255T>G (p.Ser419Ala)
NM_000143.4(FH):c.1256C>T (p.Ser419Leu) rs1131691244
NM_000143.4(FH):c.1268T>G (p.Leu423Arg) rs863224009
NM_000143.4(FH):c.1273G>A (p.Asp425Asn)
NM_000143.4(FH):c.1275T>A (p.Asp425Glu)
NM_000143.4(FH):c.1302C>A (p.Cys434Ter) rs2070080
NM_000143.4(FH):c.1390+1G>T rs886039367
NM_000143.4(FH):c.1391-269A>G rs2147911550
NM_000143.4(FH):c.1391-2del rs1064795320
NM_000143.4(FH):c.1424C>A (p.Ala475Glu) rs863224012
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.1445T>G (p.Leu482Ter) rs1064796708
NM_000143.4(FH):c.1446A>C (p.Leu482Phe) rs863223979
NM_000143.4(FH):c.1486C>T (p.Gln496Ter) rs1553340506
NM_000143.4(FH):c.1520T>A (p.Leu507Gln)
NM_000143.4(FH):c.152G>C (p.Arg51Pro) rs976734433
NM_000143.4(FH):c.157G>A (p.Glu53Lys) rs863224013
NM_000143.4(FH):c.199T>G (p.Tyr67Asp) rs1660243497
NM_000143.4(FH):c.1A>C (p.Met1Leu) rs776806414
NM_000143.4(FH):c.1A>T (p.Met1Leu) rs776806414
NM_000143.4(FH):c.214A>C (p.Thr72Pro) rs886039362
NM_000143.4(FH):c.263T>A (p.Met88Lys) rs763390436
NM_000143.4(FH):c.266_267+1delinsATT
NM_000143.4(FH):c.268-3_268-2del rs2147923117
NM_000143.4(FH):c.2T>A (p.Met1Lys) rs201261794
NM_000143.4(FH):c.2T>C (p.Met1Thr) rs201261794
NM_000143.4(FH):c.302G>C (p.Arg101Pro) rs75086406
NM_000143.4(FH):c.378+1G>A rs1660143675
NM_000143.4(FH):c.3G>A (p.Met1Ile) rs564147469
NM_000143.4(FH):c.3G>C (p.Met1Ile) rs564147469
NM_000143.4(FH):c.425A>G (p.Gln142Arg) rs1573885503
NM_000143.4(FH):c.448A>G (p.Asn150Asp) rs1660099527
NM_000143.4(FH):c.450T>A (p.Asn150Lys) rs1131691242
NM_000143.4(FH):c.452T>A (p.Met151Lys) rs1660099266
NM_000143.4(FH):c.462T>G (p.Asn154Lys) rs2147921891
NM_000143.4(FH):c.479G>C (p.Arg160Thr)
NM_000143.4(FH):c.480A>T (p.Arg160Ser)
NM_000143.4(FH):c.504del (p.Glu168fs) rs776190273
NM_000143.4(FH):c.521C>A (p.Pro174His) rs199822819
NM_000143.4(FH):c.527A>G (p.His176Arg) rs1158759883
NM_000143.4(FH):c.530C>G (p.Pro177Arg) rs2147921795
NM_000143.4(FH):c.539A>G (p.His180Arg) rs863224015
NM_000143.4(FH):c.539A>T (p.His180Leu) rs863224015
NM_000143.4(FH):c.554A>C (p.Gln185Pro) rs779707997
NM_000143.4(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.4(FH):c.555+1G>A rs1375252870
NM_000143.4(FH):c.555+5G>C rs1553341582
NM_000143.4(FH):c.556-2A>C
NM_000143.4(FH):c.556-2A>G rs750273092
NM_000143.4(FH):c.556-2A>T rs750273092
NM_000143.4(FH):c.556-9_556-2del
NM_000143.4(FH):c.563A>T (p.Asn188Ile) rs2147919711
NM_000143.4(FH):c.566A>T (p.Asp189Val) rs1064793125
NM_000143.4(FH):c.574C>G (p.Pro192Ala) rs1573883345
NM_000143.4(FH):c.574C>T (p.Pro192Ser) rs1573883345
NM_000143.4(FH):c.584T>C (p.Met195Thr) rs863223965
NM_000143.4(FH):c.589A>T (p.Ile197Phe) rs201764931
NM_000143.4(FH):c.668_669del (p.Lys223fs) rs886039364
NM_000143.4(FH):c.690G>C (p.Lys230Asn) rs2147919465
NM_000143.4(FH):c.697C>G (p.Arg233Gly) rs587781682
NM_000143.4(FH):c.698G>C (p.Arg233Pro) rs121913123
NM_000143.4(FH):c.6C>G (p.Tyr2Ter) rs199971078
NM_000143.4(FH):c.700A>C (p.Thr234Pro) rs372505976
NM_000143.4(FH):c.700A>T (p.Thr234Ser)
NM_000143.4(FH):c.701C>A (p.Thr234Asn)
NM_000143.4(FH):c.703C>A (p.His235Asn)
NM_000143.4(FH):c.703C>G (p.His235Asp) rs863223968
NM_000143.4(FH):c.703C>T (p.His235Tyr) rs863223968
NM_000143.4(FH):c.705T>G (p.His235Gln) rs919993170
NM_000143.4(FH):c.706A>G (p.Thr236Ala) rs1064793126
NM_000143.4(FH):c.712G>C (p.Asp238His)
NM_000143.4(FH):c.731T>G (p.Leu244Arg) rs1060499636
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup) rs863223984
NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del) rs786202220
NM_000143.4(FH):c.809_810del (p.Ile269_Tyr270insTer) rs1553341163
NM_000143.4(FH):c.81delinsAT (p.Leu28fs) rs1553342155
NM_000143.4(FH):c.839G>A (p.Gly280Asp) rs863223969
NM_000143.4(FH):c.844G>C (p.Gly282Arg) rs1573881629
NM_000143.4(FH):c.845G>T (p.Gly282Val) rs935002190
NM_000143.4(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.4(FH):c.893C>T (p.Ala298Val)
NM_000143.4(FH):c.904+1G>A rs1553341148
NM_000143.4(FH):c.904+1G>T rs1553341148
NM_000143.4(FH):c.905-1G>A rs797044973
NM_000143.4(FH):c.915T>G (p.Phe305Leu) rs2147916371
NM_000143.4(FH):c.923C>T (p.Ala308Val)
NM_000143.4(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.4(FH):c.934T>G (p.Phe312Val) rs863224000
NM_000143.4(FH):c.935T>C (p.Phe312Ser) rs1553341046
NM_000143.4(FH):c.935T>G (p.Phe312Cys) rs1553341046
NM_000143.4(FH):c.937G>A (p.Glu313Lys) rs863224001
NM_000143.4(FH):c.944T>C (p.Leu315Pro) rs1573880531
NM_000143.4(FH):c.947C>A (p.Ala316Asp) rs863224002
NM_000143.4(FH):c.947C>T (p.Ala316Val)
NM_000143.4(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000143.4(FH):c.967G>A (p.Glu323Lys) rs2147916256
NM_000143.4(FH):c.977G>A (p.Gly326Glu) rs1553341037
NM_000143.4(FH):c.988A>C (p.Thr330Pro) rs776313200
NM_000143.4(FH):c.998G>A (p.Cys333Tyr) rs1553341032

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.