ClinVar Miner

List of variants reported as likely benign for Peutz-Jeghers syndrome by Mendelics

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00064
NM_000455.5(STK11):c.426C>T (p.Ser142=) rs758448869 0.00053
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00050
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00043
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_000455.5(STK11):c.-137C>T rs527710714 0.00027
NM_000455.5(STK11):c.-461G>A rs552610464 0.00015
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00012
NM_000455.5(STK11):c.920+12C>T rs186518799 0.00012
NM_000455.5(STK11):c.375-7G>A rs587781176 0.00005
NM_000455.5(STK11):c.-167C>T rs1273032629 0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=) rs730881963 0.00004
NM_000455.5(STK11):c.374+9T>A rs762297795 0.00003
NM_000455.5(STK11):c.-551C>T rs1316450313 0.00001
NM_000455.5(STK11):c.375-33C>T rs1246317136 0.00001
NM_000455.5(STK11):c.921-9C>T rs761688641 0.00001
NM_000455.5(STK11):c.-280C>A rs893914050
NM_000455.5(STK11):c.-95G>T rs1323638467
NM_000455.5(STK11):c.-99C>T rs1407068597

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