ClinVar Miner

List of variants in gene MUTYH reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
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.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
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.583A>G (p.Ile195Val) rs200872702 0.00009
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr) rs192816572 0.00008
NM_001048174.2(MUTYH):c.229G>A (p.Asp77Asn) rs587780746 0.00005
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp) rs587778540 0.00003
NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp) rs779997419 0.00002
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln) rs755653922 0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe) rs763862261
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.115+2_115+3dup rs1553131287
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) rs121908381
NM_001048174.2(MUTYH):c.203T>A (p.Phe68Tyr) rs750954949
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.524G>C (p.Arg175Pro) rs538383136
NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala) rs587782351
NM_001048174.2(MUTYH):c.775del (p.Ala259fs) rs761468459
NM_001048174.2(MUTYH):c.827G>A (p.Ser276Asn) rs1553127574
NM_001048174.2(MUTYH):c.901G>T (p.Val301Leu) rs147718169

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