ClinVar Miner

List of variants studied for Cowden syndrome 1 by Mendelics

Included ClinVar conditions (14):
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_006218.4(PIK3CA):c.-138C>T rs149946088 0.00383
NM_006218.4(PIK3CA):c.1146-30G>A rs8192676 0.00308
NM_006218.4(PIK3CA):c.2016-12C>T rs147286696 0.00275
NM_006218.4(PIK3CA):c.2016-29A>T rs374926790 0.00242
NM_006218.4(PIK3CA):c.1747-9C>T rs201779641 0.00046
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=) rs200868796 0.00011
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys) rs774568101 0.00010
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys) rs202119350 0.00006
NM_003000.3(SDHB):c.307A>G (p.Met103Val) rs140178341 0.00004
NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=) rs199540873 0.00002
NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=) rs199693043 0.00002
NM_003000.3(SDHB):c.638T>C (p.Met213Thr) rs202014362 0.00001
NM_003000.3(SDHB):c.769C>G (p.Leu257Val) rs761350633 0.00001
NM_006218.4(PIK3CA):c.1060-9T>C rs750875731 0.00001
NM_006218.4(PIK3CA):c.1850G>A (p.Arg617Gln) rs3865687 0.00001
NC_000010.11:g.87965287del rs2132289111
NM_000314.8(PTEN):c.105G>A (p.Met35Ile) rs1554893782
NM_000314.8(PTEN):c.2T>C (p.Met1Thr) rs1858394001
NM_000314.8(PTEN):c.499A>G (p.Thr167Ala) rs1210737543
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.8(PTEN):c.739_740insAGT (p.Leu247Ter) rs1589663442
NM_003000.3(SDHB):c.540+11C>T rs1160578491
NM_003000.3(SDHB):c.559A>G (p.Ile187Val) rs1557739989
NM_003000.3(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003000.3(SDHB):c.721T>G (p.Tyr241Asp) rs1060503758
NM_006218.4(PIK3CA):c.1743C>T (p.Ala581=) rs370692448
NM_006218.4(PIK3CA):c.2597T>G (p.Leu866Trp) rs1576947658
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279

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