ClinVar Miner

List of variants reported as not provided for Familial adenomatous polyposis 1

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000038.6(APC):c.1743+5C>T rs876658386 0.00001
GRCh37/hg19 5q22.2(chr5:112073556-112179823)x1
NM_000038.6(APC):c.1210del (p.Ile404fs) rs1064794225
NM_000038.6(APC):c.298del (p.Glu100fs) rs1064794224
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_001127511.3(APC):c.-191T>C rs879253783

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