ClinVar Miner

List of variants reported as uncertain significance for Cowden disease by Counsyl

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.8(PTEN):c.-835C>T rs587779994 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000314.8(PTEN):c.-111G>T rs761148721 0.00006
NM_001126049.2(KLLN):c.-806A>C rs587782761 0.00004
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273 0.00002
NM_000314.8(PTEN):c.1093G>A (p.Val365Ile) rs758542021 0.00001
NM_000314.8(PTEN):c.613A>G (p.Met205Val) rs776763121 0.00001
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280 0.00001
NM_000314.8(PTEN):c.*10del rs756681683
NM_000314.8(PTEN):c.*10dup rs756681683
NM_000314.8(PTEN):c.1004G>T (p.Arg335Leu) rs1085308040
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr) rs876661264
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.235G>T (p.Ala79Ser) rs202004587
NM_000314.8(PTEN):c.802-3T>A rs587780712
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_001126049.2(KLLN):c.-812G>A rs587779981
NM_001126049.2(KLLN):c.-812G>T rs587779981
NM_001126049.2(KLLN):c.-887C>T rs786204920

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