ClinVar Miner

List of variants reported as uncertain significance for Protoporphyria, erythropoietic, 1 by Illumina Laboratory Services, Illumina

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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.*1287T>A rs113654252 0.36364
NM_000140.5(FECH):c.*2446G>T rs4940895 0.12042
NM_000140.5(FECH):c.*2441G>T rs886053982 0.00424
NM_000140.5(FECH):c.185C>G (p.Pro62Arg) rs150830931 0.00124
NM_000140.5(FECH):c.*5090G>A rs776370345 0.00060
NM_000140.5(FECH):c.*394C>G rs781751487 0.00024
NM_000140.5(FECH):c.*4077C>T rs548648988 0.00024
NM_000140.5(FECH):c.*4720T>C rs760022638 0.00016
NM_000140.5(FECH):c.*2450_*2451insG rs886053980 0.00014
NM_000140.5(FECH):c.139A>G (p.Thr47Ala) rs144831860 0.00014
NM_000140.5(FECH):c.819C>T (p.Gly273=) rs138840143 0.00013
NM_000140.5(FECH):c.*2079C>T rs886053983 0.00011
NM_000140.5(FECH):c.*2782G>T rs886053975 0.00011
NM_000140.5(FECH):c.*1950A>G rs886053985 0.00009
NM_000140.5(FECH):c.*1966G>T rs779669357 0.00009
NM_000140.5(FECH):c.*5349C>T rs189146107 0.00007
NM_000140.5(FECH):c.*2060C>T rs886053984 0.00005
NM_000140.5(FECH):c.*2600G>A rs886053976 0.00005
NM_000140.5(FECH):c.*4449A>G rs886053968 0.00005
NM_000140.5(FECH):c.*5247T>C rs375220859 0.00005
NM_000140.5(FECH):c.*2599C>T rs886053977 0.00004
NM_000140.5(FECH):c.*3656C>T rs886053974 0.00004
NM_000140.5(FECH):c.*4528C>T rs564734119 0.00004
NM_000140.5(FECH):c.*60T>C rs886053996 0.00004
NM_000140.5(FECH):c.*2513G>A rs886053978 0.00003
NM_000140.5(FECH):c.*3719C>T rs886053973 0.00003
NM_000140.5(FECH):c.*3788A>G rs886053971 0.00003
NM_000140.5(FECH):c.*4336A>G rs769571284 0.00003
NM_000140.5(FECH):c.*4337G>A rs747976113 0.00003
NM_000140.5(FECH):c.*4363G>A rs375097125 0.00003
NM_000140.5(FECH):c.202A>G (p.Lys68Glu) rs756377185 0.00003
NM_000140.5(FECH):c.*4237A>G rs886053969 0.00001
NM_000140.5(FECH):c.*443A>C rs886053994 0.00001
NM_000140.5(FECH):c.*55C>T rs886053997 0.00001
NM_000140.5(FECH):c.1078-6A>G rs2050796264 0.00001
NM_000140.5(FECH):c.912+14A>G rs886053999 0.00001
NM_000140.5(FECH):c.935G>T (p.Gly312Val) rs886053998 0.00001
NM_000140.5(FECH):c.*1071C>G rs886053992
NM_000140.5(FECH):c.*1170T>A rs886053991
NM_000140.5(FECH):c.*1170_*1176delinsAAATCTTCTATGTTTGTATTACTCTCTGGTAA rs886053988
NM_000140.5(FECH):c.*1173A>T rs868017208
NM_000140.5(FECH):c.*1175G>A rs886053990
NM_000140.5(FECH):c.*1176G>A rs886053989
NM_000140.5(FECH):c.*1287_*1288insTTTA rs59569925
NM_000140.5(FECH):c.*1348T>G rs886053987
NM_000140.5(FECH):c.*136G>C rs886053995
NM_000140.5(FECH):c.*1453T>C rs886053986
NM_000140.5(FECH):c.*2436GTTTT[2] rs886053981
NM_000140.5(FECH):c.*2451_*2452insG rs1555678907
NM_000140.5(FECH):c.*2459_*2461dup rs529946604
NM_000140.5(FECH):c.*3753_*3754insT rs886053972
NM_000140.5(FECH):c.*3976C>T rs886053970
NM_000140.5(FECH):c.*4598T>G rs886053967
NM_000140.5(FECH):c.*5170T>C rs886053966
NM_000140.5(FECH):c.*825T>C rs886053993
NM_000140.5(FECH):c.464-4A>G rs1265864647

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