ClinVar Miner

List of variants in gene SLC4A1 reported as likely pathogenic by Mayo Clinic Laboratories, Mayo Clinic

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000342.3(SLC4A1):c.2608C>T (p.Arg870Trp) rs28931585
NM_000342.4(SLC4A1):c.1010del (p.Pro337fs) rs2509967374
NM_000342.4(SLC4A1):c.1030_1041delinsGG (p.Arg344fs)
NM_000342.4(SLC4A1):c.1058dup (p.Pro354fs) rs2144615077
NM_000342.4(SLC4A1):c.1067_1068insT (p.Ser357fs) rs2509967246
NM_000342.4(SLC4A1):c.1180del (p.Tyr393_Leu394insTer) rs2144614196
NM_000342.4(SLC4A1):c.1561C>T (p.Gln521Ter) rs2144612096
NM_000342.4(SLC4A1):c.1626+1G>T rs1192674860
NM_000342.4(SLC4A1):c.1659T>A (p.Tyr553Ter) rs778311783
NM_000342.4(SLC4A1):c.1810del (p.Val604fs) rs2509963578
NM_000342.4(SLC4A1):c.1942del (p.Trp648fs)
NM_000342.4(SLC4A1):c.202G>T (p.Glu68Ter) rs13306787
NM_000342.4(SLC4A1):c.2058-1G>A
NM_000342.4(SLC4A1):c.2169G>A (p.Trp723Ter) rs2047358814
NM_000342.4(SLC4A1):c.2260C>T (p.Gln754Ter) rs2144601189
NM_000342.4(SLC4A1):c.2284A>C (p.Ser762Arg) rs2509960774
NM_000342.4(SLC4A1):c.2285G>T (p.Ser762Ile) rs2047357659
NM_000342.4(SLC4A1):c.2384del (p.Met795fs) rs2509958853
NM_000342.4(SLC4A1):c.2422C>T (p.Arg808Cys) rs1167814744
NM_000342.4(SLC4A1):c.2510C>T (p.Thr837Met) rs2047337144
NM_000342.4(SLC4A1):c.2655+2_2655+3del
NM_000342.4(SLC4A1):c.345_346insT (p.Lys116Ter)
NM_000342.4(SLC4A1):c.515del (p.Gly172fs) rs1598301457
NM_000342.4(SLC4A1):c.556C>T (p.Gln186Ter) rs756316460
NM_000342.4(SLC4A1):c.985G>T (p.Glu329Ter)

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