ClinVar Miner

List of variants in gene FH reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.2T>G (p.Met1Arg) rs201261794 0.00002
NM_000143.4(FH):c.151C>T (p.Arg51Trp) rs778678782 0.00001
NM_000143.4(FH):c.1A>G (p.Met1Val) rs776806414 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.908T>C (p.Leu303Ser) rs201502246 0.00001
NC_000001.11:g.(?_241508593)_(241513723_?)del
NM_000143.4(FH):c.1000A>C (p.Ser334Arg) rs587782216
NM_000143.4(FH):c.1084G>A (p.Glu362Lys) rs121913119
NM_000143.4(FH):c.1109-1G>C rs1298313966
NM_000143.4(FH):c.1117A>G (p.Asn373Asp)
NM_000143.4(FH):c.1145T>C (p.Met382Thr) rs2147914987
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.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.1390+1G>T rs886039367
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.1520T>A (p.Leu507Gln)
NM_000143.4(FH):c.152G>C (p.Arg51Pro) rs976734433
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.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.521C>A (p.Pro174His) rs199822819
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.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.589A>T (p.Ile197Phe) rs201764931
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.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.705T>G (p.His235Gln) rs919993170
NM_000143.4(FH):c.712G>C (p.Asp238His)
NM_000143.4(FH):c.731T>G (p.Leu244Arg) rs1060499636
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.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.915T>G (p.Phe305Leu) rs2147916371
NM_000143.4(FH):c.923C>T (p.Ala308Val)
NM_000143.4(FH):c.934T>G (p.Phe312Val) rs863224000
NM_000143.4(FH):c.935T>G (p.Phe312Cys) rs1553341046
NM_000143.4(FH):c.944T>C (p.Leu315Pro) rs1573880531
NM_000143.4(FH):c.947C>T (p.Ala316Val)
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

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