ClinVar Miner

List of variants reported as likely benign for Cowden syndrome 1 by Counsyl

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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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.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_001126049.1(KLLN):c.-898G>A rs538728843
NM_001304717.5(PTEN):c.1546+38dup rs767896771

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