ClinVar Miner

List of variants in gene MUTYH reported by Genetic Services Laboratory, University of Chicago

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00541
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_001048174.2(MUTYH):c.1102+9A>T rs587780742 0.00018
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His) rs147754007 0.00010
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His) rs144111588 0.00008
NM_001048174.2(MUTYH):c.929A>G (p.Gln310Arg) rs199742231 0.00008
NM_001048174.2(MUTYH):c.492+8G>C rs190500741 0.00007
NM_001048174.2(MUTYH):c.900C>T (p.Asp300=) rs587780752 0.00003
NM_001048174.2(MUTYH):c.1217C>T (p.Thr406Met) rs587780084 0.00001
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.913G>C (p.Ala305Pro) rs1553127251

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