ClinVar Miner

List of variants reported as benign for Protoporphyria, erythropoietic, 1 by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_000140.4(FECH):c.*117C>T rs8099115
NM_000140.4(FECH):c.*1287_*1288insTA rs59569925
NM_000140.4(FECH):c.*1622T>C rs78359676
NM_000140.4(FECH):c.*2371T>G rs1062010
NM_000140.4(FECH):c.*2451T>G rs55769459
NM_000140.4(FECH):c.*2461dup rs529946604
NM_000140.4(FECH):c.*248C>T rs8339
NM_000140.4(FECH):c.*2526T>C rs2723680
NM_000140.4(FECH):c.*2739T>C rs111695226
NM_000140.4(FECH):c.*2825A>G rs8090261
NM_000140.4(FECH):c.*3377G>T rs480942
NM_000140.4(FECH):c.*3601A>G rs73453635
NM_000140.4(FECH):c.*4106A>G rs72940306
NM_000140.4(FECH):c.*422T>A rs3760612
NM_000140.4(FECH):c.*4463A>G rs7228449
NM_000140.4(FECH):c.*4563G>T rs663774
NM_000140.4(FECH):c.*481A>G rs3760613
NM_000140.4(FECH):c.*4886T>G rs7238897
NM_000140.4(FECH):c.*4891dup rs146687823
NM_000140.4(FECH):c.*4971A>G rs114530851
NM_000140.4(FECH):c.*5588G>A rs78224804
NM_000140.4(FECH):c.*5628C>A rs13732
NM_000140.4(FECH):c.*696C>T rs76175837
NM_000140.4(FECH):c.287G>A (p.Arg96Gln) rs1041951
NM_000140.4(FECH):c.598+12T>A rs370521491
NM_000140.4(FECH):c.798C>G (p.Pro266=) rs536765
NM_000140.4(FECH):c.913-7C>T rs369538477
NM_000140.4(FECH):c.921A>G (p.Pro307=) rs536560

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