ClinVar Miner

List of variants reported as uncertain significance for Cowden syndrome 1

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 135
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HGVS dbSNP
NC_000003.11:g.(?_178916538)_(178952500_?)dup
NC_000003.11:g.(?_178941859)_(178952162_?)dup
NM_000314.4(PTEN):c.-868G>C rs587782133
NM_000314.4(PTEN):c.-943C>T rs587779999
NM_000314.7(PTEN):c.*10del rs756681683
NM_000314.7(PTEN):c.*10dup rs756681683
NM_000314.7(PTEN):c.-111G>T rs761148721
NM_000314.7(PTEN):c.-665G>A rs553371022
NM_000314.7(PTEN):c.-764G>A rs587776674
NM_000314.7(PTEN):c.-821G>T rs587779993
NM_000314.7(PTEN):c.-834C>T rs587779994
NM_000314.7(PTEN):c.1004G>T (p.Arg335Leu) rs1085308040
NM_000314.7(PTEN):c.1061C>A (p.Pro354Gln) rs375709098
NM_000314.7(PTEN):c.1061C>T (p.Pro354Leu) rs375709098
NM_000314.7(PTEN):c.1069C>A (p.Pro357Thr) rs876661264
NM_000314.7(PTEN):c.1078A>G (p.Ser360Gly) rs587781273
NM_000314.7(PTEN):c.1093G>A (p.Val365Ile) rs758542021
NM_000314.7(PTEN):c.210-39A>G rs370918174
NM_000314.7(PTEN):c.210-7_210-3del rs587780544
NM_000314.7(PTEN):c.210-8del rs1554897849
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.7(PTEN):c.235G>T (p.Ala79Ser) rs202004587
NM_000314.7(PTEN):c.254-30dup rs77494260
NM_000314.7(PTEN):c.254-51A>T rs1554898040
NM_000314.7(PTEN):c.254-72A>T rs1554898037
NM_000314.7(PTEN):c.265C>T (p.Pro89Ser) rs587783059
NM_000314.7(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.7(PTEN):c.493-31A>G rs550267891
NM_000314.7(PTEN):c.493-52A>G rs1043121029
NM_000314.7(PTEN):c.613A>G (p.Met205Val) rs776763121
NM_000314.7(PTEN):c.685T>A (p.Ser229Thr) rs587781998
NM_000314.7(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.7(PTEN):c.80-3C>G rs1554893746
NM_000314.7(PTEN):c.802-3T>A rs587780712
NM_000314.7(PTEN):c.802-51_802-14del rs557364463
NM_000314.7(PTEN):c.862G>A (p.Glu288Lys) rs1554825528
NM_000314.7(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.7(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_000314.7(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_001126049.1(KLLN):c.-736G>C rs1554889801
NM_001126049.1(KLLN):c.-792C>T rs587779982
NM_001126049.1(KLLN):c.-806A>C rs587782761
NM_001126049.1(KLLN):c.-812G>A rs587779981
NM_001126049.1(KLLN):c.-812G>T rs587779981
NM_001126049.1(KLLN):c.-828C>T rs786203674
NM_001126049.1(KLLN):c.-887C>T rs786204920
NM_003000.2(SDHB):c.112C>T (p.Arg38Cys) rs202119350
NM_003000.2(SDHB):c.200+7A>G rs371329778
NM_003000.2(SDHB):c.307A>G (p.Met103Val) rs140178341
NM_003000.2(SDHB):c.32G>A (p.Arg11His) rs111430410
NM_003000.2(SDHB):c.440A>G (p.Tyr147Cys) rs774568101
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.540+11C>T rs1160578491
NM_003000.2(SDHB):c.559A>G (p.Ile187Val) rs1557739989
NM_003000.2(SDHB):c.638T>C (p.Met213Thr) rs202014362
NM_003000.2(SDHB):c.721T>G (p.Tyr241Asp) rs1060503758
NM_003000.2(SDHB):c.769C>G (p.Leu257Val)
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_006218.4(PIK3CA):c.1004_1005del (p.Arg335fs) rs1553821123
NM_006218.4(PIK3CA):c.1130C>G (p.Pro377Arg) rs113613074
NM_006218.4(PIK3CA):c.1193G>A (p.Arg398His) rs748197872
NM_006218.4(PIK3CA):c.1324G>C (p.Ala442Pro)
NM_006218.4(PIK3CA):c.1342G>A (p.Val448Ile) rs201946684
NM_006218.4(PIK3CA):c.140A>G (p.His47Arg) rs190372148
NM_006218.4(PIK3CA):c.141T>G (p.His47Gln) rs768265254
NM_006218.4(PIK3CA):c.1432G>T (p.Asp478Tyr)
NM_006218.4(PIK3CA):c.1447G>C (p.Val483Leu)
NM_006218.4(PIK3CA):c.1481A>G (p.Glu494Gly) rs1060500027
NM_006218.4(PIK3CA):c.1489A>C (p.Asn497His) rs199563773
NM_006218.4(PIK3CA):c.1490A>G (p.Asn497Ser) rs753879573
NM_006218.4(PIK3CA):c.1528C>A (p.His510Asn) rs199747934
NM_006218.4(PIK3CA):c.1544A>G (p.Asn515Ser) rs201371389
NM_006218.4(PIK3CA):c.154G>C (p.Glu52Gln) rs1553820355
NM_006218.4(PIK3CA):c.1597G>A (p.Ala533Thr) rs1560144842
NM_006218.4(PIK3CA):c.1660C>T (p.His554Tyr)
NM_006218.4(PIK3CA):c.1747A>G (p.Met583Val) rs1553823608
NM_006218.4(PIK3CA):c.1766A>G (p.Asp589Gly) rs1060500028
NM_006218.4(PIK3CA):c.178C>A (p.Gln60Lys) rs71310379
NM_006218.4(PIK3CA):c.1828A>G (p.Met610Val) rs768646872
NM_006218.4(PIK3CA):c.1949T>C (p.Val650Ala) rs1553823718
NM_006218.4(PIK3CA):c.2015+4A>C rs1060500026
NM_006218.4(PIK3CA):c.2016-3T>C rs879254354
NM_006218.4(PIK3CA):c.2048G>C (p.Arg683Thr)
NM_006218.4(PIK3CA):c.2072A>G (p.Tyr691Cys)
NM_006218.4(PIK3CA):c.2077C>T (p.Arg693Cys) rs1060500029
NM_006218.4(PIK3CA):c.2080G>T (p.Ala694Ser)
NM_006218.4(PIK3CA):c.211G>A (p.Val71Ile) rs201269904
NM_006218.4(PIK3CA):c.214A>G (p.Ser72Gly) rs1560137176
NM_006218.4(PIK3CA):c.2294+5T>C
NM_006218.4(PIK3CA):c.2361_2363CAT[1] (p.Ile788del)
NM_006218.4(PIK3CA):c.2371G>T (p.Glu791Ter) rs1060500030
NM_006218.4(PIK3CA):c.2416+6G>A
NM_006218.4(PIK3CA):c.2422C>T (p.Arg808Trp) rs200671228
NM_006218.4(PIK3CA):c.2453G>A (p.Arg818His) rs371049193
NM_006218.4(PIK3CA):c.2524G>A (p.Gly842Ser) rs1560148927
NM_006218.4(PIK3CA):c.2626A>G (p.Thr876Ala)
NM_006218.4(PIK3CA):c.2651A>G (p.Lys884Arg) rs1395235750
NM_006218.4(PIK3CA):c.2666+3G>A
NM_006218.4(PIK3CA):c.2667A>G (p.Ile889Met)
NM_006218.4(PIK3CA):c.2728A>G (p.Ile910Val) rs1553825421
NM_006218.4(PIK3CA):c.2872C>A (p.Gln958Lys)
NM_006218.4(PIK3CA):c.2915C>T (p.Thr972Ile) rs1553825480
NM_006218.4(PIK3CA):c.2937-3T>C
NM_006218.4(PIK3CA):c.2975G>A (p.Arg992Gln) rs1560150481
NM_006218.4(PIK3CA):c.29_53del (p.Leu10fs) rs1560137030
NM_006218.4(PIK3CA):c.3132T>A (p.Asn1044Lys)
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
NM_006218.4(PIK3CA):c.3194A>T (p.His1065Leu) rs1560150596
NM_006218.4(PIK3CA):c.3197C>T (p.Ala1066Val)
NM_006218.4(PIK3CA):c.321_323del (p.Arg108del) rs1553820399
NM_006218.4(PIK3CA):c.327A>C (p.Glu109Asp) rs1060500031
NM_006218.4(PIK3CA):c.341A>G (p.Asn114Ser) rs746860750
NM_006218.4(PIK3CA):c.361A>G (p.Ile121Val) rs371727887
NM_006218.4(PIK3CA):c.386A>G (p.Asp129Gly) rs1553820490
NM_006218.4(PIK3CA):c.400C>T (p.Pro134Ser) rs750545881
NM_006218.4(PIK3CA):c.40C>T (p.His14Tyr)
NM_006218.4(PIK3CA):c.436G>A (p.Val146Ile) rs755969956
NM_006218.4(PIK3CA):c.466C>T (p.Leu156Phe) rs201705993
NM_006218.4(PIK3CA):c.470A>G (p.Asn157Ser)
NM_006218.4(PIK3CA):c.476C>T (p.Pro159Leu) rs200762923
NM_006218.4(PIK3CA):c.483T>C (p.Ser161=)
NM_006218.4(PIK3CA):c.559A>G (p.Lys187Glu)
NM_006218.4(PIK3CA):c.560A>C (p.Lys187Thr) rs1553820520
NM_006218.4(PIK3CA):c.563-3T>C
NM_006218.4(PIK3CA):c.623C>G (p.Thr208Ser)
NM_006218.4(PIK3CA):c.742G>A (p.Gly248Ser) rs1553820694
NM_006218.4(PIK3CA):c.764G>A (p.Cys255Tyr) rs1060500032
NM_006218.4(PIK3CA):c.817A>G (p.Ile273Val)
NM_006218.4(PIK3CA):c.851dup (p.Asn284fs)
NM_006218.4(PIK3CA):c.931A>G (p.Ile311Val) rs201238717
NM_006218.4(PIK3CA):c.946C>A (p.Pro316Thr)
NM_006218.4(PIK3CA):c.954G>A (p.Met318Ile)
NM_006218.4(PIK3CA):c.995G>T (p.Ser332Ile) rs1262394031
NM_021930.6(RINT1):c.1447A>G (p.Met483Val) rs869312982
NM_021930.6(RINT1):c.1671_1671+2del rs869312981

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