ClinVar Miner

List of variants in gene SLC52A3 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_033409.4(SLC52A3):c.339C>T (p.Phe113=) rs151229044 0.00072
NM_033409.4(SLC52A3):c.546G>A (p.Thr182=) rs139965967 0.00068
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln) rs142157418 0.00022
NM_033409.4(SLC52A3):c.97G>C (p.Glu33Gln) rs199861879 0.00011
NM_033409.4(SLC52A3):c.363C>G (p.Thr121=) rs749966154 0.00008
NM_033409.4(SLC52A3):c.*12A>G rs547810606 0.00001
NM_033409.4(SLC52A3):c.927C>T (p.Phe309=) rs781422986 0.00001
NM_033409.4(SLC52A3):c.951G>A (p.Met317Ile) rs1027231153 0.00001
NM_033409.4(SLC52A3):c.*13C>A rs768028308
NM_033409.4(SLC52A3):c.1263G>T (p.Leu421=) rs1599955750
NM_033409.4(SLC52A3):c.63T>C (p.Asn21=) rs574008733

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