ClinVar Miner

List of variants reported as pathogenic for X-linked sideroblastic anemia with ataxia by OMIM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met)	rs72554634
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu)	rs80356713
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys)	rs80356714

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