ClinVar Miner

List of variants studied for X-linked sideroblastic anemia with ataxia

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001271696.3(ABCB7):c.1739C>T (p.Ala580Val) rs1340989 0.08733
NM_001271696.3(ABCB7):c.945-7C>T rs5937938 0.00961
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His) rs114142266 0.00447
NM_001271696.3(ABCB7):c.312C>T (p.Leu104=) rs140031135 0.00412
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.1032+12A>G rs148980611 0.00087
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.2066C>T (p.Thr689Ile) rs768257406 0.00001
NM_001271696.3(ABCB7):c.2073T>C (p.His691=) rs781524899 0.00001
NM_001271696.3(ABCB7):c.1106A>G (p.Lys369Arg)
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=) rs72554634
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.1235T>C (p.Met412Thr) rs1057518042
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys) rs80356714
NM_001271696.3(ABCB7):c.168+69C>G rs1039123
NM_001271696.3(ABCB7):c.1936-3C>G rs1602330362
NM_001271696.3(ABCB7):c.358A>G (p.Ile120Val)
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp) rs515726147
NM_001271696.3(ABCB7):c.944+3A>G rs2081385144

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