ClinVar Miner

List of variants reported as benign for Peutz-Jeghers syndrome by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.*616T>C rs10415095 0.57700
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_000455.5(STK11):c.*685C>A rs111773256 0.05323
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_000455.5(STK11):c.264C>A (p.Ile88=) rs56354945 0.02303
NM_000455.5(STK11):c.-1024C>T rs147615524 0.01666
NM_000455.5(STK11):c.-311C>T rs149756065 0.01265
NM_000455.4(STK11):c.*365C>G rs535975204 0.00633
NM_000455.5(STK11):c.-127T>C rs532196225 0.00374
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000455.5(STK11):c.-577C>T rs560480063 0.00210
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_000455.5(STK11):c.*460G>A rs558582150 0.00147
NM_000455.5(STK11):c.*317C>G rs550127419 0.00115
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00100
NM_000455.5(STK11):c.-580G>A rs548605358 0.00098
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000455.5(STK11):c.-274C>T rs372994361 0.00049
NM_000455.5(STK11):c.-137C>T rs527710714 0.00027
NM_000455.5(STK11):c.-562G>C rs187649480 0.00009
NM_000455.5(STK11):c.-2G>T rs774072752 0.00007
NM_000455.5(STK11):c.723T>C (p.Ala241=) rs533550278 0.00004
NM_000455.5(STK11):c.464+10C>T rs587782445 0.00003
NM_000455.5(STK11):c.*494T>A rs577030468 0.00001
NM_000455.5(STK11):c.-430C>T rs115594813
NM_000455.5(STK11):c.96C>G (p.Thr32=) rs79175212

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