ClinVar Miner

List of variants in gene SLC5A1 reported by Mendelics

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His) rs774651252 0.00001
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter) rs779502629 0.00001
NM_000343.4(SLC5A1):c.1496G>C (p.Arg499Pro) rs927157864
NM_000343.4(SLC5A1):c.1695del (p.Asn565fs) rs1455367784

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