ClinVar Miner

List of variants in gene SLC26A2 reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275 0.00073
NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr) rs139051143 0.00026
NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544 0.00022
NM_000112.4(SLC26A2):c.24A>G (p.Gln8=) rs372345029 0.00003
NM_000112.4(SLC26A2):c.1178G>A (p.Gly393Asp) rs794727476 0.00001
NM_000112.4(SLC26A2):c.1462A>G (p.Ile488Val) rs757709677 0.00001
NM_000112.4(SLC26A2):c.1003A>G (p.Ile335Val) rs765407252
NM_000112.4(SLC26A2):c.844G>C (p.Gly282Arg) rs571410872

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