ClinVar Miner

List of variants reported as benign for Cowden syndrome 6

Included ClinVar conditions (2):
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001382430.1(AKT1):c.175+100A>T rs2494737 0.39797
NM_001382430.1(AKT1):c.726G>A (p.Glu242=) rs1130233 0.22241
NM_001382430.1(AKT1):c.604C>T (p.Leu202=) rs2230506 0.03899
NM_001382430.1(AKT1):c.558C>T (p.Ile186=) rs34670300 0.02248
NM_001382430.1(AKT1):c.567+14G>A rs3730345 0.01364
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=) rs139297659 0.01008
NM_001382430.1(AKT1):c.1179C>T (p.Gly393=) rs11555434 0.00876
NM_001382430.1(AKT1):c.1389C>T (p.Ser463=) rs144112075 0.00237
NM_001382430.1(AKT1):c.1020C>T (p.Tyr340=) rs144088506 0.00224
NM_001382430.1(AKT1):c.957+18G>A rs35314414 0.00155
NM_001382430.1(AKT1):c.288-14C>T rs138386095 0.00083
NM_001382430.1(AKT1):c.47-12G>A rs17846816 0.00067
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=) rs56289559 0.00063
NM_001382430.1(AKT1):c.432C>T (p.Arg144=) rs17846825 0.00060
NM_001382430.1(AKT1):c.1364-11del rs548780765 0.00044
NM_001382430.1(AKT1):c.567+12G>A rs201432590 0.00031
NM_001382430.1(AKT1):c.1363+12C>T rs61761248 0.00029
NM_001382430.1(AKT1):c.406G>A (p.Val136Met) rs778376616 0.00015
NM_001382430.1(AKT1):c.1260+12C>T rs765383641 0.00010
NM_001382430.1(AKT1):c.958-7C>T rs369048965 0.00007
NM_001382430.1(AKT1):c.958-6G>A rs199770031 0.00006
NM_001382430.1(AKT1):c.570C>T (p.Asp190=) rs780207480 0.00005
NM_001382430.1(AKT1):c.807C>T (p.Asn269=) rs201044857 0.00002
NM_001382430.1(AKT1):c.175+18C>G rs3730358
NM_001382430.1(AKT1):c.175+18C>T rs3730358
NM_001382430.1(AKT1):c.176-23_176-17del rs763840311

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