ClinVar Miner

List of variants in gene HSCB studied for Anemia, sideroblastic, 5

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_172002.5(HSCB):c.259dup (p.Thr87fs)	rs773607816	0.00001
NC_000022.11:g.28741962G>A	rs551244874
NM_172002.5(HSCB):c.124T>G (p.Trp42Gly)
NM_172002.5(HSCB):c.145G>T (p.Gly49Cys)
NM_172002.5(HSCB):c.296G>A (p.Arg99His)

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