ClinVar Miner

List of variants studied for Familial adenomatous polyposis 2 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00011
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_001048174.2(MUTYH):c.900C>T (p.Asp300=) rs587780752 0.00003
NM_001048174.2(MUTYH):c.1031C>G (p.Ser344Cys) rs763862261 0.00001
NM_001048174.2(MUTYH):c.36C>T (p.His12=) rs776396492 0.00001
NM_001048174.2(MUTYH):c.116-55C>T rs1316542179
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1393-51_*2del

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