ClinVar Miner

List of variants in gene SLC26A2 reported by Martin Pollak Laboratory, Beth Israel Deaconess Medical Center

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.172C>T (p.Arg58Cys) rs369318758 0.00003
NM_000112.4(SLC26A2):c.1215C>G (p.Ala405=) rs387907489
NM_000112.4(SLC26A2):c.1798T>C (p.Tyr600His) rs387907492
NM_000112.4(SLC26A2):c.1996A>G (p.Thr666Ala) rs387907490
NM_000112.4(SLC26A2):c.81C>G (p.Ile27Met) rs387907491

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