ClinVar Miner

List of variants reported as benign for Peutz-Jeghers syndrome by KCCC/NGS Laboratory, Kuwait Cancer Control Center

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.290+36G>T rs3764640 0.25746
NM_000455.5(STK11):c.374+24G>T rs2075604 0.18985
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
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.369G>A (p.Gln123=) rs140112347 0.00584
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_000455.5(STK11):c.598-8C>T rs373610101 0.00123
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00064
NM_000455.5(STK11):c.597+8C>T rs565387911 0.00017
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00009
NM_000455.5(STK11):c.734+17C>G rs751929304 0.00006
NM_000455.5(STK11):c.666C>T (p.Pro222=) rs542189325 0.00005
NM_000455.5(STK11):c.1044C>T (p.Asp348=) rs778274196 0.00004
NM_000455.5(STK11):c.464+10C>T rs587782445 0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=) rs730881963 0.00004
NM_000455.5(STK11):c.621C>T (p.Asp207=) rs569380138 0.00003
NM_000455.5(STK11):c.1128G>A (p.Glu376=) rs747018506 0.00001
NM_000455.5(STK11):c.219C>T (p.Cys73=) rs761825242 0.00001
NM_000455.5(STK11):c.465-17G>A rs761361803 0.00001
NM_000455.5(STK11):c.765C>T (p.Phe255=) rs769912677 0.00001
NM_000455.5(STK11):c.537G>T (p.Pro179=) rs528535500

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