List of variants in gene SLC4A1 reported as 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: 36

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HGVS	dbSNP	gnomAD frequency
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)	rs45562031	0.01150
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg)	rs28931583	0.00054
NM_000342.3(SLC4A1):c.268G>A (p.Glu90Lys)	rs28929480	0.00013
NM_000342.3(SLC4A1):c.388G>A (p.Gly130Arg)	rs121912749	0.00004
NM_000342.3(SLC4A1):c.-62G>A	rs387906565	0.00002
NM_000342.4(SLC4A1):c.2102G>A (p.Gly701Asp)	rs121912748	0.00002
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)	rs28931584	0.00001
NM_000342.3(SLC4A1):c.2312G>A (p.Gly771Asp)	rs121912741	0.00001
NM_000342.4(SLC4A1):c.2210C>T (p.Ala737Val)	rs886052997	0.00001
NM_000342.3(SLC4A1):c.(1094_1375)_(2057+11_2058-41)del
NM_000342.3(SLC4A1):c.2279G>A (p.Arg760Gln)	rs121912755
NM_000342.3(SLC4A1):c.2464_2465insCACCCAGATG (p.Val822Alafs)	rs387906566
NM_000342.3(SLC4A1):c.2509A>G (p.Thr837Ala)	rs121912750
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp)	rs28931585
NM_000342.3(SLC4A1):c.448C>T (p.Arg150Ter)	rs56361140
NM_000342.3(SLC4A1):c.988C>T (p.Gln330Ter)	rs121912742
NM_000342.4(SLC4A1):c.1030C>T (p.Arg344Ter)	rs750930293
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)	rs769664228
NM_000342.4(SLC4A1):c.1267_1268insG (p.Phe423fs)
NM_000342.4(SLC4A1):c.1331C>A (p.Thr444Asn)	rs754973425
NM_000342.4(SLC4A1):c.1458C>G (p.Tyr486Ter)	rs1555596072
NM_000342.4(SLC4A1):c.1610dup (p.Ser538fs)	rs2047398183
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)	rs121912745
NM_000342.4(SLC4A1):c.1805G>C (p.Arg602Pro)	rs121912754
NM_000342.4(SLC4A1):c.1825G>A (p.Gly609Arg)	rs878853002
NM_000342.4(SLC4A1):c.2060T>C (p.Leu687Pro)	rs863225463
NM_000342.4(SLC4A1):c.2191T>C (p.Ser731Pro)	rs863225461
NM_000342.4(SLC4A1):c.2201A>G (p.His734Arg)	rs863225462
NM_000342.4(SLC4A1):c.2269A>T (p.Lys757Ter)	rs2144601154
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp)	rs373916826
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His)	rs866727908
NM_000342.4(SLC4A1):c.2545GTG[1] (p.Val850del)	rs121912752
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)	rs121912751
NM_000342.4(SLC4A1):c.370C>T (p.Gln124Ter)
NM_000342.4(SLC4A1):c.486-2A>G	rs1555596757
NM_000342.4(SLC4A1):c.910C>T (p.Arg304Ter)

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