ClinVar Miner

List of variants reported as uncertain significance for Generalized juvenile polyposis/juvenile polyposis coli by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_005359.6(SMAD4):c.-9C>G rs864622289 0.00001
NC_000010.10:g.(?_88514773)_(88683486_?)dup
NC_000010.10:g.(?_88598623)_(88649987_?)dup
NC_000010.10:g.(?_88598623)_(88683482_?)dup
NC_000010.10:g.(?_88598623)_(88683486_?)dup
NC_000010.10:g.(?_88659541)_(88683486_?)dup
NC_000010.10:g.(?_88676885)_(88683482_?)dup
NC_000010.11:g.(?_86755016)_(86756919_?)dup
NC_000010.11:g.(?_86755016)_(86923719_?)dup
NC_000010.11:g.(?_86755016)_(86923725_?)dup
NC_000010.11:g.(?_86838866)_(86923719_?)dup
NC_000018.10:g.(?_51030213)_(51030623_?)del
NC_000018.10:g.(?_51030213)_(51078467_?)dup
NC_000018.9:g.(?_48556583)_(48603156_?)dup
NC_000018.9:g.(?_48556583)_(48604847_?)dup
NC_000018.9:g.(?_48603008)_(48611412_?)dup
NM_004329.2(BMPR1A):c.-152-?_333+?dup
NM_004329.3(BMPR1A):c.1009T>G (p.Ser337Ala) rs1589291671
NM_004329.3(BMPR1A):c.1022G>A (p.Gly341Asp) rs1564724250
NM_004329.3(BMPR1A):c.1324CGT[1] (p.Arg443del) rs864622075
NM_004329.3(BMPR1A):c.506TCT[1] (p.Phe170del) rs878854669
NM_005359.6(SMAD4):c.31A>G (p.Thr11Ala) rs587780791
NM_005359.6(SMAD4):c.477G>C (p.Lys159Asn) rs1909795479

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