ClinVar Miner

List of variants in gene PTEN reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.1027-2A>C rs1085308041
NM_000314.8(PTEN):c.277_292del (p.Asp92_His93insTer) rs1554898071
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) rs786204910
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.705del (p.Asp236fs) rs1554825202
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter) rs786202918
NM_000314.8(PTEN):c.938del (p.Lys313fs) rs1554825571

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