ClinVar Miner

List of variants reported as uncertain significance for Familial adenomatous polyposis 2 by Revvity Omics, Revvity

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys) rs149342980 0.00021
NM_001048174.2(MUTYH):c.1504G>T (p.Asp502Tyr) rs147923905 0.00008
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) rs147718169 0.00008
NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala) rs587778537 0.00002
NM_001048174.2(MUTYH):c.1057G>T (p.Gly353Trp) rs587778539 0.00001
NM_001048174.2(MUTYH):c.1429T>G (p.Cys477Gly) rs876659488 0.00001
NM_001048174.2(MUTYH):c.796C>T (p.Arg266Cys) rs199840380 0.00001
NM_001048174.2(MUTYH):c.1264A>G (p.Lys422Glu) rs1644794654
NM_001048174.2(MUTYH):c.200C>A (p.Ala67Asp) rs1645363196
NM_001048174.2(MUTYH):c.383G>T (p.Trp128Leu) rs762307622

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