ClinVar Miner

List of variants reported as not provided for classic or attenuated familial adenomatous polyposis by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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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_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) rs146347092 0.00026
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_002528.7(NTHL1):c.149C>T (p.Pro50Leu) rs139165943 0.00019
NM_002439.5(MSH3):c.2044G>C (p.Val682Leu) rs145657887 0.00012
NM_006231.4(POLE):c.6730C>T (p.Leu2244Phe) rs375741031 0.00010
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His) rs144111588 0.00008
NM_002528.7(NTHL1):c.763C>T (p.Arg255Cys) rs779992803 0.00005
NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile) rs759295912 0.00004
NM_002528.7(NTHL1):c.445C>T (p.Arg149Trp) rs376048896 0.00004
NM_002691.4(POLD1):c.1040C>T (p.Pro347Leu) rs2230243 0.00004
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu) rs529008617 0.00003
NM_002528.7(NTHL1):c.169C>T (p.Arg57Cys) rs767591879 0.00003
NM_001048174.2(MUTYH):c.809G>A (p.Ser270Asn) rs757080586 0.00002
NM_002691.4(POLD1):c.367C>T (p.Pro123Ser) rs761127022 0.00002
NM_000038.6(APC):c.1743+5C>T rs876658386 0.00001
NM_000038.6(APC):c.323G>A (p.Gly108Glu) rs1114167456 0.00001
NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu) rs777184451 0.00001
NM_002439.5(MSH3):c.1078A>G (p.Met360Val) rs1260085751 0.00001
NM_002439.5(MSH3):c.1834G>A (p.Glu612Lys) rs759247521 0.00001
NM_002528.7(NTHL1):c.680G>A (p.Gly227Asp) rs1055874267 0.00001
NM_002691.4(POLD1):c.2458G>A (p.Ala820Thr) rs753609023 0.00001
NM_006231.4(POLE):c.1550C>T (p.Pro517Leu) rs780556141 0.00001
GRCh37/hg19 5q22.2(chr5:112073556-112179823)x1
NM_000038.6(APC):c.3629A>T (p.His1210Leu) rs756346998
NM_000038.6(APC):c.863C>T (p.Thr288Ile) rs1580511667
NM_001048174.2(MUTYH):c.487C>T (p.Arg163Trp) rs761101420
NM_002439.5(MSH3):c.2499C>G (p.Cys833Trp) rs1744532481
NM_002528.7(NTHL1):c.172G>T (p.Val58Leu) rs1177326558
NM_002691.4(POLD1):c.623C>T (p.Pro208Leu) rs774030917
NM_006231.4(POLE):c.4450A>G (p.Ile1484Val) rs772734618
NM_006231.4(POLE):c.4924T>C (p.Cys1642Arg) rs1593730686

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