List of variants in gene CFH reported as uncertain significance for age-related macular degeneration

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: 103

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HGVS	dbSNP	gnomAD frequency
NM_000186.4(CFH):c.245-15T>C	rs200079172	0.00052
NM_000186.4(CFH):c.285T>C (p.Thr95=)	rs148182625	0.00049
NM_000186.4(CFH):c.172T>G (p.Ser58Ala)	rs141336681	0.00047
NM_000186.4(CFH):c.1825G>A (p.Val609Ile)	rs148165372	0.00042
NM_000186.3(CFH):c.-175T>C	rs762143457	0.00036
NM_000186.4(CFH):c.1111C>A (p.His371Asn)	rs145650378	0.00036
NM_000186.4(CFH):c.2171C>A (p.Thr724Lys)	rs142902005	0.00032
NM_000186.4(CFH):c.2957-7A>G	rs190778135	0.00031
NM_000186.4(CFH):c.3079G>C (p.Ala1027Pro)	rs373385518	0.00026
NM_000186.4(CFH):c.3133+4C>G	rs374729595	0.00025
NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu)	rs62625015	0.00025
NM_000186.4(CFH):c.3291G>A (p.Thr1097=)	rs409953	0.00023
NM_000186.4(CFH):c.1198C>A (p.Gln400Lys)	rs201671665	0.00019
NM_000186.4(CFH):c.2675C>T (p.Ala892Val)	rs151068461	0.00017
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg)	rs201816520	0.00014
NM_000186.4(CFH):c.472G>A (p.Val158Ile)	rs141852866	0.00014
NM_000186.4(CFH):c.388G>A (p.Asp130Asn)	rs147002633	0.00013
NM_000186.4(CFH):c.2488C>T (p.Arg830Trp)	rs62641696	0.00011
NM_000186.4(CFH):c.476G>A (p.Ser159Asn)	rs370640334	0.00011
NM_000186.4(CFH):c.2461C>T (p.His821Tyr)	rs367687415	0.00010
NM_000186.4(CFH):c.332T>A (p.Val111Glu)	rs576819823	0.00010
NM_000186.4(CFH):c.1418C>T (p.Ala473Val)	rs371053403	0.00006
NM_000186.4(CFH):c.1922T>C (p.Val641Ala)	rs371768180	0.00006
NM_000186.4(CFH):c.2195C>T (p.Thr732Met)	rs201360629	0.00006
NM_000186.4(CFH):c.2196G>A (p.Thr732=)	rs144325643	0.00006
NM_000186.4(CFH):c.3310+12T>C	rs757045842	0.00006
NM_000186.4(CFH):c.3160G>A (p.Val1054Ile)	rs757426928	0.00005
NM_000186.4(CFH):c.1998G>T (p.Lys666Asn)	rs752859825	0.00004
NM_000186.4(CFH):c.2596+8G>T	rs375176505	0.00004
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr)	rs11539862	0.00004
NM_000186.4(CFH):c.481G>T (p.Ala161Ser)	rs777300338	0.00004
NM_000186.4(CFH):c.565G>A (p.Glu189Lys)	rs121913054	0.00004
NM_000186.4(CFH):c.764G>A (p.Gly255Glu)	rs771112278	0.00004
NM_000186.4(CFH):c.907C>T (p.Arg303Trp)	rs142937931	0.00004
NM_000186.4(CFH):c.526T>C (p.Phe176Leu)	rs762132970	0.00003
NM_000186.4(CFH):c.647T>C (p.Ile216Thr)	rs183474263	0.00003
NM_000186.4(CFH):c.770G>A (p.Arg257His)	rs140107330	0.00003
NM_000186.4(CFH):c.122C>T (p.Thr41Ile)	rs1192717326	0.00002
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala)	rs570523689	0.00002
NM_000186.4(CFH):c.16A>G (p.Lys6Glu)	rs749875053	0.00002
NM_000186.4(CFH):c.1913A>G (p.Asn638Ser)	rs755928805	0.00002
NM_000186.4(CFH):c.2278A>T (p.Ile760Leu)	rs772553879	0.00002
NM_000186.4(CFH):c.2424A>G (p.Ile808Met)	rs752302466	0.00002
NM_000186.4(CFH):c.2456A>G (p.Asn819Ser)	rs781393769	0.00002
NM_000186.4(CFH):c.2639C>T (p.Thr880Ile)	rs186711438	0.00002
NM_000186.4(CFH):c.2900G>A (p.Gly967Glu)	rs375951438	0.00002
NM_000186.4(CFH):c.3156C>T (p.Pro1052=)	rs764539113	0.00002
NM_000186.4(CFH):c.33G>T (p.Met11Ile)	rs779670935	0.00002
NM_000186.4(CFH):c.*14G>A	rs463726	0.00001
NM_000186.4(CFH):c.100A>T (p.Thr34Ser)	rs1389897706	0.00001
NM_000186.4(CFH):c.1357A>T (p.Ile453Leu)	rs1450633243	0.00001
NM_000186.4(CFH):c.1474A>G (p.Ile492Val)	rs892717090	0.00001
NM_000186.4(CFH):c.1612G>C (p.Asp538His)	rs778051521	0.00001
NM_000186.4(CFH):c.1697-3A>C	rs778174105	0.00001
NM_000186.4(CFH):c.1744C>T (p.Arg582Cys)	rs144696019	0.00001
NM_000186.4(CFH):c.1745G>A (p.Arg582His)	rs138890387	0.00001
NM_000186.4(CFH):c.1864A>G (p.Ile622Val)	rs990484984	0.00001
NM_000186.4(CFH):c.1934C>T (p.Thr645Met)	rs749232210	0.00001
NM_000186.4(CFH):c.2047G>A (p.Val683Met)	rs573295841	0.00001
NM_000186.4(CFH):c.2151C>A (p.Phe717Leu)	rs763441589	0.00001
NM_000186.4(CFH):c.2314G>A (p.Asp772Asn)	rs374704701	0.00001
NM_000186.4(CFH):c.2416G>T (p.Ala806Ser)	rs753331225	0.00001
NM_000186.4(CFH):c.2542G>A (p.Gly848Arg)	rs886045746	0.00001
NM_000186.4(CFH):c.2753G>A (p.Gly918Glu)	rs1408179720	0.00001
NM_000186.4(CFH):c.2784C>A (p.Gly928=)	rs755926856	0.00001
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser)	rs149938052	0.00001
NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly)	rs1366929531	0.00001
NM_000186.4(CFH):c.3134-7T>C	rs779166622	0.00001
NM_000186.4(CFH):c.3357C>G (p.Asp1119Glu)	rs1408795010	0.00001
NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe)	rs771435716	0.00001
NM_000186.4(CFH):c.3581G>A (p.Gly1194Asp)	rs761877050	0.00001
NM_000186.4(CFH):c.496C>T (p.Arg166Trp)	rs746222626	0.00001
NM_000186.4(CFH):c.506A>G (p.His169Arg)	rs768647508	0.00001
NM_000186.4(CFH):c.524G>C (p.Arg175Pro)	rs139360826	0.00001
NM_000186.4(CFH):c.727T>C (p.Tyr243His)	rs748692496	0.00001
NM_000186.4(CFH):c.879G>A (p.Gln293=)	rs769615121	0.00001
NM_000186.4(CFH):c.889G>A (p.Gly297Ser)	rs764573258	0.00001
NM_000186.4(CFH):c.*127G>T	rs369221006
NM_000186.4(CFH):c.-61A>G	rs886045741
NM_000186.4(CFH):c.103G>A (p.Gly35Ser)	rs886045742
NM_000186.4(CFH):c.1451C>T (p.Ala484Val)	rs1668781638
NM_000186.4(CFH):c.1511C>T (p.Thr504Met)	rs377008918
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly)	rs757756991
NM_000186.4(CFH):c.1795C>A (p.Pro599Thr)
NM_000186.4(CFH):c.1984A>G (p.Arg662Gly)	rs760174473
NM_000186.4(CFH):c.2030A>G (p.Glu677Gly)
NM_000186.4(CFH):c.2054T>C (p.Ile685Thr)	rs1431491220
NM_000186.4(CFH):c.2072G>C (p.Cys691Ser)	rs2149108610
NM_000186.4(CFH):c.2215A>G (p.Thr739Ala)	rs886045745
NM_000186.4(CFH):c.275C>T (p.Pro92Leu)	rs886045743
NM_000186.4(CFH):c.2763T>C (p.Ser921=)	rs1212658402
NM_000186.4(CFH):c.2956+13G>A	rs572034879
NM_000186.4(CFH):c.3118A>G (p.Arg1040Gly)
NM_000186.4(CFH):c.3134-5T>C	rs513699
NM_000186.4(CFH):c.3169G>A (p.Ala1057Thr)	rs1652885970
NM_000186.4(CFH):c.3306C>G (p.Cys1102Trp)
NM_000186.4(CFH):c.3446G>A (p.Arg1149Gln)	rs1064795727
NM_000186.4(CFH):c.3493C>T (p.His1165Tyr)
NM_000186.4(CFH):c.497G>A (p.Arg166Gln)	rs770339409
NM_000186.4(CFH):c.497G>T (p.Arg166Leu)	rs770339409
NM_000186.4(CFH):c.752G>A (p.Cys251Tyr)
NM_000186.4(CFH):c.773C>T (p.Pro258Leu)
NM_000186.4(CFH):c.7C>G (p.Leu3Val)	rs139254423

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