ClinVar Miner

List of variants in gene SLC17A8 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_139319.3(SLC17A8):c.310G>A (p.Val104Ile) rs373954823 0.00027
NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile) rs201180712 0.00007
NM_139319.3(SLC17A8):c.547G>A (p.Gly183Arg) rs150737570 0.00004
NM_139319.3(SLC17A8):c.854C>T (p.Thr285Ile) rs727503424 0.00004
NM_139319.3(SLC17A8):c.354+4G>C rs727504846 0.00002
NM_139319.3(SLC17A8):c.705G>A (p.Met235Ile) rs144556614 0.00001

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