List of variants in gene FH reported as likely pathogenic 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: 46

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HGVS	dbSNP	gnomAD frequency
NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)	rs863224010	0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly)	rs145116688	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.914T>C (p.Phe305Ser)	rs1439046582	0.00001
NM_000143.4(FH):c.923C>G (p.Ala308Gly)	rs1057524385	0.00001
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.1104_1106delinsACT (p.Met368_Pro369delinsIleLeu)	rs863223987
NM_000143.4(FH):c.1108+1G>T	rs1057517734
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.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.1250T>G (p.Leu417Ter)	rs1553340709
NM_000143.4(FH):c.1268T>G (p.Leu423Arg)	rs863224009
NM_000143.4(FH):c.1302C>A (p.Cys434Ter)	rs2070080
NM_000143.4(FH):c.1391-269A>G	rs2147911550
NM_000143.4(FH):c.1391-2del	rs1064795320
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.302G>C (p.Arg101Pro)	rs75086406
NM_000143.4(FH):c.504del (p.Glu168fs)	rs776190273
NM_000143.4(FH):c.527A>G (p.His176Arg)	rs1158759883
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>T	rs750273092
NM_000143.4(FH):c.566A>T (p.Asp189Val)	rs1064793125
NM_000143.4(FH):c.584T>C (p.Met195Thr)	rs863223965
NM_000143.4(FH):c.6C>G (p.Tyr2Ter)	rs199971078
NM_000143.4(FH):c.703C>T (p.His235Tyr)	rs863223968
NM_000143.4(FH):c.706A>G (p.Thr236Ala)	rs1064793126
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.892G>C (p.Ala298Pro)	rs201395553
NM_000143.4(FH):c.905-1G>A	rs797044973
NM_000143.4(FH):c.934T>C (p.Phe312Leu)	rs863224000
NM_000143.4(FH):c.935T>C (p.Phe312Ser)	rs1553341046
NM_000143.4(FH):c.937G>A (p.Glu313Lys)	rs863224001
NM_000143.4(FH):c.947C>A (p.Ala316Asp)	rs863224002
NM_000143.4(FH):c.965T>G (p.Val322Gly)	rs863224003

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