ClinVar Miner

List of variants reported as uncertain significance for Cowden syndrome 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000314.8(PTEN):c.-666G>A rs553371022 0.00069
NM_001126049.2(KLLN):c.-792C>T rs587779982 0.00044
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000314.6(PTEN):c.-859A>G rs876661029 0.00013
NM_001126049.2(KLLN):c.-777C>T rs961642255 0.00013
NM_000314.8(PTEN):c.-835C>T rs587779994 0.00011
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000314.8(PTEN):c.-121A>G rs886047395 0.00004
NM_001126049.2(KLLN):c.-1039G>A rs587779999 0.00004
NM_001126049.2(KLLN):c.-806A>C rs587782761 0.00004
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_001126049.2(KLLN):c.-845C>T rs587782068 0.00003
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000314.6(PTEN):c.-868G>C rs587782133
NM_000314.8(PTEN):c.-752G>A rs1256922808
NM_000314.8(PTEN):c.-752GGC[4] rs933847861
NM_000314.8(PTEN):c.-822G>T rs587779993
NM_000314.8(PTEN):c.1189C>T (p.His397Tyr) rs1589669413
NM_000314.8(PTEN):c.488A>G (p.Lys163Arg) rs786202753
NM_000314.8(PTEN):c.593T>C (p.Met198Thr) rs1554900635
NM_000314.8(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) rs1064794436
NM_001126049.2(KLLN):c.-736G>C rs1554889801
NM_001126049.2(KLLN):c.-828C>T rs786203674

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