ClinVar Miner

List of variants in gene SLC4A3 reported as uncertain significance by Martin Pollak Laboratory, Beth Israel Deaconess Medical Center

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Gene type:
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005070.4(SLC4A3):c.2784G>A (p.Gly928=) rs387907534 0.00011
NM_005070.4(SLC4A3):c.3066C>T (p.Ser1022=) rs376572581 0.00006
NM_005070.4(SLC4A3):c.2233G>A (p.Val745Met) rs387907533 0.00002
NM_005070.4(SLC4A3):c.146A>G (p.Asp49Gly) rs387907529
NM_005070.4(SLC4A3):c.371C>T (p.Pro124Leu) rs387907531
NM_005070.4(SLC4A3):c.664C>A (p.Pro222Thr) rs387907530
NM_005070.4(SLC4A3):c.681C>T (p.Ala227=) rs387907532

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