ClinVar Miner

List of variants in gene SLC4A1 reported as pathogenic by OMIM

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036 0.05002
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644 0.00284
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583 0.00054
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu) rs121912759 0.00051
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_000342.4(SLC4A1):c.1937G>A (p.Arg646Gln) rs121912757 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.1936C>T (p.Arg646Trp) rs121912758 0.00001
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.1199_1225del (p.Ala400_Ala408del) rs769664228
NM_000342.4(SLC4A1):c.1765C>A (p.Arg589Ser) rs121912745
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His) rs121912744
NM_000342.4(SLC4A1):c.1805G>C (p.Arg602Pro) rs121912754
NM_000342.4(SLC4A1):c.1838C>T (p.Ser613Phe) rs121912746
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.2317T>C (p.Ser773Pro) rs121912753
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.[2687_2699dup;2710_2718del]

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