ClinVar Miner

List of variants in gene FECH reported as benign for Protoporphyria, erythropoietic, 1

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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.*2526T>C rs2723680 0.99842
NM_000140.5(FECH):c.*2825A>G rs8090261 0.99840
NM_000140.5(FECH):c.314+23A>G rs577152 0.98504
NM_000140.5(FECH):c.*4563G>T rs663774 0.76588
NM_000140.5(FECH):c.921A>G (p.Pro307=) rs536560 0.74784
NM_000140.5(FECH):c.*4886T>G rs7238897 0.26760
NM_000140.5(FECH):c.*248C>T rs8339 0.21849
NM_000140.5(FECH):c.*3377G>T rs480942 0.11174
NM_000140.5(FECH):c.287G>A (p.Arg96Gln) rs1041951 0.10933
NM_000140.5(FECH):c.*2371T>G rs1062010 0.10588
NM_000140.5(FECH):c.*2739T>C rs111695226 0.03343
NM_000140.5(FECH):c.*4463A>G rs7228449 0.03133
NM_000140.5(FECH):c.*3601A>G rs73453635 0.02742
NM_000140.5(FECH):c.*117C>T rs8099115 0.02200
NM_000140.5(FECH):c.*4971A>G rs114530851 0.02076
NM_000140.5(FECH):c.*2451T>G rs55769459 0.01725
NM_000140.5(FECH):c.*1622T>C rs78359676 0.01713
NM_000140.5(FECH):c.*696C>T rs76175837 0.01710
NM_000140.5(FECH):c.*422T>A rs3760612 0.01705
NM_000140.5(FECH):c.*481A>G rs3760613 0.01701
NM_000140.5(FECH):c.*5588G>A rs78224804 0.01585
NM_000140.5(FECH):c.*4106A>G rs72940306 0.00744
NM_000140.5(FECH):c.598+12T>A rs370521491 0.00071
NM_000140.5(FECH):c.*1287_*1288insTA rs59569925
NM_000140.5(FECH):c.*2461dup rs529946604
NM_000140.5(FECH):c.*4891dup rs146687823
NM_000140.5(FECH):c.*5628C>A rs13732
NM_000140.5(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.5(FECH):c.798C>G (p.Pro266=) rs536765
NM_000140.5(FECH):c.913-7C>T rs369538477

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