ClinVar Miner

List of variants reported as benign for protoporphyria, erythropoietic, 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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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.68-23C>T rs2269219 0.27629
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_005689.4(ABCB6):c.1028G>A (p.Arg343Gln) rs60322991 0.04800
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_005689.4(ABCB6):c.826C>T (p.Arg276Trp) rs57467915 0.00979
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser) rs149363094 0.00792
NM_000140.5(FECH):c.*4106A>G rs72940306 0.00744
NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr) rs147445258 0.00672
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser) rs145526996 0.00431
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) rs150221689 0.00303
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp) rs149202834 0.00166
NM_005689.4(ABCB6):c.739C>T (p.Arg247Cys) rs190528998 0.00115
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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