ClinVar Miner

List of variants in gene SLC12A5 reported by GeneReviews

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_020708.5(SLC12A5):c.1127C>T (p.Ser376Leu) rs1568862550
NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro) rs863225304
NM_020708.5(SLC12A5):c.1243A>G (p.Met415Val) rs368484023
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp) rs863225305
NM_020708.5(SLC12A5):c.2239TCC[1] (p.Ser748del) rs1568866916
NM_020708.5(SLC12A5):c.2570G>T (p.Arg857Leu) rs750336750
NM_020708.5(SLC12A5):c.279+1G>C rs1568858867
NM_020708.5(SLC12A5):c.572C>T (p.Ala191Val) rs1568859798
NM_020708.5(SLC12A5):c.863T>A (p.Leu288His) rs863225306
NM_020708.5(SLC12A5):c.953G>C (p.Trp318Ser) rs1259210706
NM_020708.5(SLC12A5):c.967T>C (p.Ser323Pro) rs1220094830

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