ClinVar Miner

List of variants in gene SLC6A5 reported by Mendelics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004211.5(SLC6A5):c.485C>G (p.Ala162Gly) rs1443549 0.99417
NM_004211.5(SLC6A5):c.371T>C (p.Phe124Ser) rs1443548 0.79432
NM_004211.5(SLC6A5):c.823G>A (p.Ala275Thr) rs748625983 0.00011
NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys) rs143918578 0.00004
NM_004211.5(SLC6A5):c.1640T>C (p.Phe547Ser) rs772652517 0.00001
NM_004211.5(SLC6A5):c.1486AAC[1] (p.Asn497del) rs2133800193

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