ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.-326G>C rs2943772 0.99984
NC_000010.11:g.87864104del rs71022512 0.99907
NM_000314.8(PTEN):c.1026+32T>G rs555895 0.40232
NM_000314.8(PTEN):c.80-96A>G rs1903858 0.38960
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000314.8(PTEN):c.-9C>G rs11202592 0.00139
NM_000314.8(PTEN):c.79+35C>T rs190707033 0.00130
NM_000314.8(PTEN):c.-313A>T rs1014763428 0.00019
NM_000314.8(PTEN):c.493-42A>G rs765083317 0.00016
NM_000314.8(PTEN):c.253+66A>G rs377719086 0.00010
NM_000314.8(PTEN):c.-246C>T rs886047393 0.00003
NM_000314.8(PTEN):c.-28C>T rs764917503 0.00003
NM_000314.8(PTEN):c.855A>G (p.Glu285=) rs751888926 0.00003
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000314.8(PTEN):c.209+97T>C rs1283192594 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000314.8(PTEN):c.-511G>A rs12573787
NM_000314.8(PTEN):c.-531_-486del rs1564800757
NM_000314.8(PTEN):c.1027-2A>C rs1085308041
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.166T>A (p.Phe56Ile) rs1589640376
NM_000314.8(PTEN):c.212G>A (p.Cys71Tyr) rs1554897856
NM_000314.8(PTEN):c.254-62A>C rs1052364593
NM_000314.8(PTEN):c.277_292del (p.Asp92_His93insTer) rs1554898071
NM_000314.8(PTEN):c.396T>C (p.Gly132=) rs1564830257
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter) rs786204910
NM_000314.8(PTEN):c.538T>C (p.Tyr180His) rs746280047
NM_000314.8(PTEN):c.587A>G (p.His196Arg) rs1564837944
NM_000314.8(PTEN):c.634+5G>C rs138336847
NM_000314.8(PTEN):c.635-1G>T rs876661024
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) rs121909219
NM_000314.8(PTEN):c.705del (p.Asp236fs) rs1554825202
NM_000314.8(PTEN):c.721T>C (p.Phe241Leu) rs1554825207
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter) rs786202918
NM_000314.8(PTEN):c.79+33_79+36del rs1465716096
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000314.8(PTEN):c.938del (p.Lys313fs) rs1554825571

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