ClinVar Miner

List of variants studied for Peutz-Jeghers syndrome by Pathway Genomics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000455.5(STK11):c.149T>G (p.Leu50Arg) rs587783061
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000455.5(STK11):c.838_839delinsGT (p.Pro280Val) rs786205863
NM_000455.5(STK11):c.842del (p.Pro281fs) rs121913321
NM_000455.5(STK11):c.844dup (p.Leu282fs) rs786205864

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