List of variants in gene SLC4A1 reported as likely pathogenic for anemia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)	rs45562031	0.01150
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val)	rs571740084	0.00003
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)	rs28931584	0.00001
NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys)	rs1398477044	0.00001
NM_000342.4(SLC4A1):c.695-3C>A	rs772264078	0.00001
NM_000342.4(SLC4A1):c.1153G>C (p.Asp385His)	rs2047407019
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)	rs769664228
NM_000342.4(SLC4A1):c.1322T>G (p.Leu441Arg)	rs1555596165
NM_000342.4(SLC4A1):c.2116C>A (p.Leu706Met)
NM_000342.4(SLC4A1):c.2159G>T (p.Gly720Val)
NM_000342.4(SLC4A1):c.2165C>T (p.Pro722Leu)
NM_000342.4(SLC4A1):c.2312G>T (p.Gly771Val)	rs121912741
NM_000342.4(SLC4A1):c.2369G>A (p.Gly790Asp)
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His)	rs866727908
NM_000342.4(SLC4A1):c.2464del (p.Val822fs)
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)	rs121912751
NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter)	rs199694087
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr)	rs2047328405
NM_000342.4(SLC4A1):c.331C>T (p.Arg111Cys)

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