ClinVar Miner

List of variants studied for X-linked sideroblastic anemia with ataxia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) rs147584361 0.00272
NM_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg) rs151288786 0.00187
NM_001271696.3(ABCB7):c.*113A>G rs916633787 0.00024
NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu) rs201842753 0.00004
NM_001271696.3(ABCB7):c.1935+5G>C rs763223675 0.00002
NM_001271696.3(ABCB7):c.1230A>G (p.Leu410=) rs1175852840 0.00001
NM_001271696.3(ABCB7):c.168+13T>C rs1057515989 0.00001
NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg) rs141119655 0.00001
NM_001271696.3(ABCB7):c.2073T>C (p.His691=) rs781524899 0.00001
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=) rs72554634

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