List of variants in gene PTEN reported as uncertain significance for Macrocephaly-autism syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)	rs202004587	0.00011
NM_000314.8(PTEN):c.451G>A (p.Ala151Thr)	rs1859982098	0.00001
NM_000314.8(PTEN):c.-307del	rs1858374988
NM_000314.8(PTEN):c.1043C>T (p.Thr348Ile)
NM_000314.8(PTEN):c.209+1_209+2dup	rs1564826836
NM_000314.8(PTEN):c.254-26A>T	rs757177445
NM_000314.8(PTEN):c.35A>G (p.Asn12Ser)	rs1085308044
NM_000314.8(PTEN):c.470A>G (p.Glu157Gly)	rs1085308051
NM_000314.8(PTEN):c.493-6C>G	rs1554900496
NM_000314.8(PTEN):c.66C>G (p.Asp22Glu)	rs786201335
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln)	rs121909235
NM_000314.8(PTEN):c.809T>G (p.Met270Arg)

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