List of variants reported as pathogenic for Juvenile polyposis syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp)	rs876658515
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)	rs121912581
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)	rs80338963
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)	rs377767347
NM_005359.6(SMAD4):c.604_605insAGATCGGAAGAGCACACGTCGCTCTTCCGATCTTTAG (p.Ala202fs)

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