ClinVar Miner

List of variants studied for Generalized juvenile polyposis/juvenile polyposis coli by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NC_000010.11:g.(86838980_86875866)_(86876086_86890061)del
NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter) rs1131691181
NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter) rs587782682
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1271dup (p.Asp424fs) rs1555686616
NM_005359.6(SMAD4):c.1392del (p.Val465fs) rs1910480814
NM_005359.6(SMAD4):c.502G>T (p.Gly168Ter) rs1909795990
NM_005359.6(SMAD4):c.787+2T>C rs1909895611

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