ClinVar Miner

List of variants in gene PTEN reported as pathogenic for Macrocephaly/autism syndrome

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Total variants: 16
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HGVS dbSNP
NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.7(PTEN):c.1048dup (p.Thr350fs) rs797045066
NM_000314.7(PTEN):c.278A>G (p.His93Arg) rs121909238
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.7(PTEN):c.392C>T (p.Thr131Ile) rs397514560
NM_000314.7(PTEN):c.42_43GA[3] (p.Tyr16fs) rs1057524874
NM_000314.7(PTEN):c.500C>A (p.Thr167Asn) rs397514559
NM_000314.7(PTEN):c.545T>C (p.Leu182Ser) rs794729664
NM_000314.7(PTEN):c.640C>T (p.Gln214Ter) rs121909227
NM_000314.7(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.7(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.7(PTEN):c.740T>C (p.Leu247Ser) rs1057519368
NM_000314.7(PTEN):c.755A>G (p.Asp252Gly) rs121909239
NM_000314.7(PTEN):c.900del (p.Ile300fs) rs797045904
NM_001304718.2(PTEN):c.-346dup rs398123323
PTEN, 1-BP INS, 519T

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