ClinVar Miner

List of variants studied for variegate porphyria by Phillips Lab, Hematology, University of Utah

Included ClinVar conditions (5):

Alzheimer disease; Variegate porphyria; Microvascular complications of diabetes, susceptibility to, 7; Hemochromatosis type 1; Transferrin serum level quantitative trait locus 2; Familial porphyria cutanea tarda
Charcot-Marie-Tooth disease type 1B; Variegate porphyria; Migraine, familial hemiplegic, 2; Paragangliomas 3
Variegate porphyria
Variegate porphyria, childhood-onset
Variegate porphyria; Microvascular complications of diabetes, susceptibility to, 7; Alzheimer disease type 1; Hemochromatosis type 1; Transferrin serum level quantitative trait locus 2; Familial porphyria cutanea tarda

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
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

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