ClinVar Miner

List of variants studied for Familial adenomatous polyposis 2 by Revvity Omics, Revvity

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Total variants: 39
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HGVS dbSNP gnomAD frequency
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.1392+2C>T rs140288388 0.00031
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys) rs149342980 0.00021
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00013
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
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.1156C>T (p.Gln386Ter) rs766420907 0.00006
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) rs587782228 0.00003
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) rs747993448 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) rs587782885 0.00002
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter) rs786203115 0.00002
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.1087C>T (p.Gln363Ter) rs587783057 0.00001
NM_001048174.2(MUTYH):c.1102+1G>A rs587781337 0.00001
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628 0.00001
NM_001048174.2(MUTYH):c.1429T>G (p.Cys477Gly) rs876659488 0.00001
NM_001048174.2(MUTYH):c.1434+1G>C rs876659420 0.00001
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu) rs777184451 0.00001
NM_001048174.2(MUTYH):c.464G>A (p.Gly155Asp) rs587781864 0.00001
NM_001048174.2(MUTYH):c.694C>T (p.Gln232Ter) rs773087549 0.00001
NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) rs769237459 0.00001
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) rs730881833 0.00001
NM_001048174.2(MUTYH):c.796C>T (p.Arg266Cys) rs199840380 0.00001
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1264A>G (p.Lys422Glu) rs1644794654
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.168C>A (p.Tyr56Ter) rs1645371113
NM_001048174.2(MUTYH):c.200C>A (p.Ala67Asp) rs1645363196
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter) rs748170941
NM_001048174.2(MUTYH):c.305-1G>A rs372267274
NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp) rs876660190
NM_001048174.2(MUTYH):c.378+1G>T rs1645259682
NM_001048174.2(MUTYH):c.383G>T (p.Trp128Leu) rs762307622

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