ClinVar Miner

List of variants in gene SLC17A5 reported by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=) rs3757112 0.05389
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
NM_012434.5(SLC17A5):c.553A>G (p.Met185Val) rs34348416 0.00257
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile) rs140060360 0.00037
NM_012434.5(SLC17A5):c.851C>G (p.Pro284Arg) rs549687571 0.00016
NM_012434.5(SLC17A5):c.703A>T (p.Thr235Ser) rs747385791 0.00009
NM_012434.5(SLC17A5):c.291G>A (p.Thr97=) rs386833990 0.00002
NM_012434.5(SLC17A5):c.1355C>G (p.Thr452Ser)

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