ClinVar Miner

List of variants in gene PTEN reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.-714G>A rs587779989 0.00006
NM_000314.8(PTEN):c.*10T>A rs769236743 0.00004
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.159A>G (p.Val53=) rs189583426 0.00003
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000314.8(PTEN):c.887G>A (p.Cys296Tyr) rs1060500121 0.00001
NM_000314.8(PTEN):c.901G>A (p.Asp301Asn) rs758644748 0.00001
NM_000314.8(PTEN):c.*10del rs756681683
NM_000314.8(PTEN):c.*10dup rs756681683
NM_000314.8(PTEN):c.-32CCT[1] rs749497048
NM_000314.8(PTEN):c.-354G>A rs1242894494
NM_000314.8(PTEN):c.-54C>T
NM_000314.8(PTEN):c.-58C>T
NM_000314.8(PTEN):c.-65A>C
NM_000314.8(PTEN):c.-729C>T rs1554890049
NM_000314.8(PTEN):c.-735G>A rs886047384
NM_000314.8(PTEN):c.-735G>C rs886047384
NM_000314.8(PTEN):c.-9C>T rs11202592
NM_000314.8(PTEN):c.1010T>C (p.Phe337Ser)
NM_000314.8(PTEN):c.1027-4C>G rs587782788
NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp) rs587782345
NM_000314.8(PTEN):c.1075G>T (p.Ala359Ser) rs864622594
NM_000314.8(PTEN):c.1126C>G (p.His376Asp)
NM_000314.8(PTEN):c.1130A>T (p.Tyr377Phe) rs751286806
NM_000314.8(PTEN):c.1133_1136del (p.Arg378fs) rs1064794878
NM_000314.8(PTEN):c.1161A>G (p.Pro387=) rs1057523975
NM_000314.8(PTEN):c.160G>A (p.Val54Ile) rs786204916
NM_000314.8(PTEN):c.206A>G (p.Asn69Ser) rs786204922
NM_000314.8(PTEN):c.210-8del rs1554897849
NM_000314.8(PTEN):c.266C>G (p.Pro89Arg) rs1554898059
NM_000314.8(PTEN):c.478A>C (p.Thr160Pro) rs1060500128
NM_000314.8(PTEN):c.538T>C (p.Tyr180His) rs746280047
NM_000314.8(PTEN):c.582G>A (p.Leu194=) rs1860422594
NM_000314.8(PTEN):c.592ATG[1] (p.Met199del) rs1064793244
NM_000314.8(PTEN):c.677C>T (p.Ser226Phe) rs2132276728
NM_000314.8(PTEN):c.685T>A (p.Ser229Thr) rs587781998
NM_000314.8(PTEN):c.79+41C>G
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn) rs1554825266
NM_000314.8(PTEN):c.825A>G (p.Val275=) rs1860617849
NM_000314.8(PTEN):c.914G>T (p.Ser305Ile) rs587780007
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) rs1064794436
NM_000314.8(PTEN):c.935A>G (p.Asp312Gly) rs863224667

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