ClinVar Miner

List of variants studied for Cowden syndrome 1 by Counsyl

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Total variants: 54
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HGVS dbSNP
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.-499_-497GGC[6] rs1237307954
NM_000314.7(PTEN):c.-764G>A rs587776674
NM_000314.7(PTEN):c.-834C>T rs587779994
NM_000314.7(PTEN):c.-9C>G rs11202592
NM_000314.7(PTEN):c.1004G>T (p.Arg335Leu) rs1085308040
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.1093G>A (p.Val365Ile) rs758542021
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.235G>T (p.Ala79Ser) rs202004587
NM_000314.7(PTEN):c.261A>G (p.Gln87=) rs149772796
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.7(PTEN):c.493-12dup rs756623620
NM_000314.7(PTEN):c.579G>A (p.Leu193=) rs568851024
NM_000314.7(PTEN):c.633C>A (p.Cys211Ter) rs121909232
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.802-3T>A rs587780712
NM_000314.7(PTEN):c.802-54_802-16del rs1028746954
NM_000314.7(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.1026+38dup rs767896771
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly) rs587781273
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.8(PTEN):c.613A>G (p.Met205Val) rs776763121
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.8(PTEN):c.79+23_79+25del rs1221062997
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815
NM_001126049.2(KLLN):c.-806A>C rs587782761
NM_001126049.2(KLLN):c.-812G>A rs587779981
NM_001126049.2(KLLN):c.-812G>T rs587779981
NM_001126049.2(KLLN):c.-887C>T rs786204920
NM_001126049.2(KLLN):c.-898G>A rs538728843
NM_001304718.2(PTEN):c.-447_-443dup rs1554898085
NM_001304718.2(PTEN):c.-451dup rs1554898083

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