ClinVar Miner

List of variants in gene combination LOC130006765, PTS reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000317.3(PTS):c.25C>T (p.Arg9Cys) rs1859865664
NM_000317.3(PTS):c.26G>A (p.Arg9His) rs1213277062
NM_000317.3(PTS):c.58T>C (p.Phe20Leu)
NM_000317.3(PTS):c.73C>G (p.Arg25Gly) rs1167104933
NM_000317.3(PTS):c.73C>T (p.Arg25Ter) rs1167104933
NM_000317.3(PTS):c.83G>A (p.Ser28Asn)

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