ClinVar Miner

List of variants studied for autosomal erythropoietic protoporphyria by Phillips Lab, Hematology, University of Utah

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005689.4(ABCB6):c.1028G>A (p.Arg343Gln) rs60322991 0.04800
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_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

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