List of variants studied for protoporphyria, erythropoietic, 1 by Phillips Lab, Hematology, University of Utah

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_005689.4(ABCB6):c.1028G>A (p.Arg343Gln)	rs60322991	0.04457
NM_005689.4(ABCB6):c.826C>T (p.Arg276Trp)	rs57467915	0.00936
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser)	rs149363094	0.00792
NM_005689.4(ABCB6):c.1474G>A (p.Ala492Thr)	rs147445258	0.00642
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser)	rs145526996	0.00392
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln)	rs150221689	0.00303
NM_005689.4(ABCB6):c.574C>T (p.Arg192Trp)	rs149202834	0.00159
NM_005689.4(ABCB6):c.739C>T (p.Arg247Cys)	rs190528998	0.00115

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