ClinVar Miner

List of variants reported as uncertain significance for Peutz-Jeghers syndrome by Mendelics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.920+5G>A rs587780013 0.00008
NM_000455.5(STK11):c.992G>A (p.Arg331Gln) rs371264852 0.00006
NM_000455.5(STK11):c.613G>A (p.Ala205Thr) rs730881981 0.00004
NM_000455.5(STK11):c.911G>A (p.Arg304Gln) rs376280361 0.00003
NM_000455.5(STK11):c.1040C>T (p.Ala347Val) rs587782058 0.00002
NM_000455.5(STK11):c.-4C>T rs1181075160 0.00001
NM_000455.5(STK11):c.1163A>G (p.Lys388Arg) rs756877141 0.00001
NM_000455.5(STK11):c.465-3C>T rs587781619 0.00001
NM_000455.5(STK11):c.877G>A (p.Glu293Lys) rs398123405 0.00001
NM_000455.5(STK11):c.*16+8_*16+17dup rs1453954065
NM_000455.5(STK11):c.1087A>G (p.Thr363Ala) rs764458789
NM_000455.5(STK11):c.1108G>C (p.Gly370Arg) rs747655835
NM_000455.5(STK11):c.1128G>T (p.Glu376Asp) rs747018506
NM_000455.5(STK11):c.1178A>G (p.Asn393Ser) rs1060499965
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser) rs768780695
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.5(STK11):c.188T>C (p.Val63Ala) rs1568690276
NM_000455.5(STK11):c.217T>C (p.Cys73Arg) rs1568690354
NM_000455.5(STK11):c.375-13C>T rs1568705244
NM_000455.5(STK11):c.458C>A (p.Ala153Asp) rs1555737824
NM_000455.5(STK11):c.863-5C>T rs1599928248
NM_000455.5(STK11):c.970C>T (p.Pro324Ser) rs549474196

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