ClinVar Miner

List of variants in gene SLC4A1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000342.4(SLC4A1):c.16-14G>A rs145502796 0.01351
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031 0.01150
NM_000342.4(SLC4A1):c.615T>C (p.Asp205=) rs5038 0.00070
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160 0.00031
NM_000342.4(SLC4A1):c.1162C>T (p.Arg388Cys) rs765891978 0.00003
NM_000342.4(SLC4A1):c.2184C>T (p.Thr728=) rs150858709 0.00002
NM_000342.4(SLC4A1):c.1480G>A (p.Gly494Ser) rs751771382 0.00001
NM_000342.4(SLC4A1):c.2149G>A (p.Ala717Thr) rs750490778 0.00001
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) rs28931585
NM_000342.4(SLC4A1):c.1172C>T (p.Pro391Leu)
NM_000342.4(SLC4A1):c.1224C>T (p.Ala408=)
NM_000342.4(SLC4A1):c.1242T>C (p.Phe414=)
NM_000342.4(SLC4A1):c.1428_1430del (p.Phe476_Ser477delinsLeu) rs2144612947
NM_000342.4(SLC4A1):c.168+1G>A
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys) rs121912745
NM_000342.4(SLC4A1):c.1890+1G>A rs1567830555
NM_000342.4(SLC4A1):c.2510C>T (p.Thr837Met) rs2047337144
NM_000342.4(SLC4A1):c.277G>A (p.Ala93Thr)

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