ClinVar Miner

List of variants studied for Familial adenomatous polyposis 2 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000376.3(VDR):c.803T>C (p.Ile268Thr) rs1164008328 0.00001
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.539T>C (p.Leu180Pro)

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