ClinVar Miner

List of variants reported as likely benign for Cowden syndrome 1

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 70
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HGVS dbSNP
NM_000314.6(PTEN):c.165-13_165-10delGTTT rs786204877
NM_000314.6(PTEN):c.79+23_79+25delCTC rs1221062997
NM_000314.7(PTEN):c.-499_-497GGC[6] rs1237307954
NM_000314.7(PTEN):c.-734G>A rs886047384
NM_000314.7(PTEN):c.1197A>G (p.Gln399=) rs374684043
NM_000314.7(PTEN):c.165-8_165-4del rs760571273
NM_000314.7(PTEN):c.210-12C>T rs766570103
NM_000314.7(PTEN):c.210-17T>C rs750987148
NM_000314.7(PTEN):c.210-26A>G rs776849737
NM_000314.7(PTEN):c.210-26A>T rs776849737
NM_000314.7(PTEN):c.210-9T>C rs751744545
NM_000314.7(PTEN):c.234C>T (p.Thr78=) rs35917308
NM_000314.7(PTEN):c.261A>G (p.Gln87=) rs149772796
NM_000314.7(PTEN):c.493-12dup rs756623620
NM_000314.7(PTEN):c.579G>A (p.Leu193=) rs568851024
NM_000314.7(PTEN):c.635-16G>A rs750772657
NM_000314.7(PTEN):c.720C>T (p.Tyr240=) rs190070312
NM_000314.7(PTEN):c.738G>A (p.Pro246=) rs774364894
NM_000314.7(PTEN):c.801+23G>A rs116160352
NM_000314.7(PTEN):c.801+8C>G rs1057517630
NM_000314.7(PTEN):c.802-12T>C rs587781129
NM_000314.7(PTEN):c.802-54_802-16del rs1028746954
NM_000314.7(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_001126049.1(KLLN):c.-898G>A rs538728843
NM_001304717.5(PTEN):c.1546+38dup rs767896771
NM_003000.2(SDHB):c.170A>G (p.His57Arg) rs35962811
NM_006218.4(PIK3CA):c.1029C>T (p.Tyr343=) rs375577477
NM_006218.4(PIK3CA):c.1056T>C (p.Asp352=) rs1131681
NM_006218.4(PIK3CA):c.1215C>T (p.Ser405=) rs199689419
NM_006218.4(PIK3CA):c.1254A>G (p.Glu418=) rs1060503810
NM_006218.4(PIK3CA):c.1269A>T (p.Ala423=) rs761246978
NM_006218.4(PIK3CA):c.1305T>C (p.Thr435=) rs1060503812
NM_006218.4(PIK3CA):c.1356A>G (p.Leu452=) rs1553822208
NM_006218.4(PIK3CA):c.1449G>C (p.Val483=) rs202186428
NM_006218.4(PIK3CA):c.1485T>C (p.His495=) rs1480813252
NM_006218.4(PIK3CA):c.1512A>T (p.Ala504=) rs201108344
NM_006218.4(PIK3CA):c.1530C>T (p.His510=) rs200934230
NM_006218.4(PIK3CA):c.1563T>C (p.Asn521=) rs756835265
NM_006218.4(PIK3CA):c.1635G>A (p.Glu545=) rs121913275
NM_006218.4(PIK3CA):c.1686C>T (p.Pro562=) rs201815216
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=) rs200868796
NM_006218.4(PIK3CA):c.1747-9C>T rs201779641
NM_006218.4(PIK3CA):c.1959A>G (p.Leu653=) rs1553823720
NM_006218.4(PIK3CA):c.2013A>G (p.Leu671=) rs1060503813
NM_006218.4(PIK3CA):c.2015+9A>G rs200768351
NM_006218.4(PIK3CA):c.2040T>C (p.Val680=) rs201402676
NM_006218.4(PIK3CA):c.2049G>A (p.Arg683=) rs775001064
NM_006218.4(PIK3CA):c.210C>T (p.Phe70=) rs760094170
NM_006218.4(PIK3CA):c.2118C>T (p.Val706=) rs373861259
NM_006218.4(PIK3CA):c.213A>G (p.Val71=) rs879254355
NM_006218.4(PIK3CA):c.2169G>A (p.Lys723=) rs1201015891
NM_006218.4(PIK3CA):c.225A>G (p.Gln75=) rs202176973
NM_006218.4(PIK3CA):c.2295-8T>C rs754640150
NM_006218.4(PIK3CA):c.2301A>G (p.Glu767=) rs769405239
NM_006218.4(PIK3CA):c.2417-4T>G rs1060503815
NM_006218.4(PIK3CA):c.2439A>C (p.Thr813=) rs201600506
NM_006218.4(PIK3CA):c.2439A>G (p.Thr813=) rs201600506
NM_006218.4(PIK3CA):c.2514T>C (p.Cys838=) rs202175608
NM_006218.4(PIK3CA):c.252T>C (p.Asp84=) rs1060503814
NM_006218.4(PIK3CA):c.2649C>T (p.Asp883=) rs199826066
NM_006218.4(PIK3CA):c.2775C>T (p.Asp925=) rs769962451
NM_006218.4(PIK3CA):c.2856G>A (p.Val952=) rs1282232507
NM_006218.4(PIK3CA):c.2919G>A (p.Lys973=) rs369770518
NM_006218.4(PIK3CA):c.3198A>G (p.Ala1066=) rs201911086
NM_006218.4(PIK3CA):c.353-2dup rs1181503590
NM_006218.4(PIK3CA):c.529T>C (p.Leu177=) rs759712592
NM_006218.4(PIK3CA):c.636C>T (p.Asn212=) rs1060503811
NM_006218.4(PIK3CA):c.705C>A (p.Ser235=) rs879254356
NM_006218.4(PIK3CA):c.849C>T (p.Pro283=) rs1553821070
NM_021930.6(RINT1):c.330A>G (p.Ala110=) rs374658950

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