ClinVar Miner

List of variants studied for familial adenomatous polyposis 3

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 187
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HGVS dbSNP gnomAD frequency
NM_002528.7(NTHL1):c.116-10C>G rs3211970 0.00366
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr) rs1805378 0.00155
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) rs148104494 0.00086
NM_002528.7(NTHL1):c.712G>A (p.Ala238Thr) rs147559648 0.00043
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) rs146347092 0.00026
NM_002528.7(NTHL1):c.149C>T (p.Pro50Leu) rs139165943 0.00019
NM_002528.7(NTHL1):c.268A>G (p.Asn90Asp) rs141903513 0.00013
NM_002528.7(NTHL1):c.416C>T (p.Thr139Met) rs756597137 0.00013
NM_002528.7(NTHL1):c.358C>G (p.Arg120Gly) rs370228590 0.00010
NM_002528.7(NTHL1):c.877C>G (p.Leu293Val) rs200420874 0.00010
NM_002528.7(NTHL1):c.746A>G (p.Lys249Arg) rs373067940 0.00009
NM_002528.7(NTHL1):c.896C>T (p.Pro299Leu) rs367629024 0.00009
NM_002528.7(NTHL1):c.526-1G>A rs779757251 0.00008
NM_002528.7(NTHL1):c.652A>G (p.Met218Val) rs367577861 0.00008
NM_002528.7(NTHL1):c.769G>A (p.Ala257Thr) rs148474733 0.00008
NM_002528.7(NTHL1):c.103G>C (p.Glu35Gln) rs747272786 0.00007
NM_002528.7(NTHL1):c.37C>T (p.Arg13Trp) rs3087469 0.00007
NM_002528.7(NTHL1):c.677C>T (p.Ser226Leu) rs3211977 0.00007
NM_002528.7(NTHL1):c.764G>A (p.Arg255His) rs756036462 0.00007
NM_002528.7(NTHL1):c.29C>G (p.Thr10Ser) rs370539291 0.00006
NM_002528.7(NTHL1):c.31C>T (p.Arg11Trp) rs549760347 0.00006
NM_002528.7(NTHL1):c.455C>T (p.Thr152Met) rs756403102 0.00006
NM_002528.7(NTHL1):c.476C>T (p.Thr159Ile) rs968060928 0.00006
NM_002528.7(NTHL1):c.763C>T (p.Arg255Cys) rs779992803 0.00005
NM_002528.7(NTHL1):c.119C>T (p.Ala40Val) rs375615004 0.00004
NM_002528.7(NTHL1):c.151C>T (p.Arg51Trp) rs376907606 0.00004
NM_002528.7(NTHL1):c.445C>T (p.Arg149Trp) rs376048896 0.00004
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter) rs753029097 0.00004
NM_002528.7(NTHL1):c.169C>T (p.Arg57Cys) rs767591879 0.00003
NM_002528.7(NTHL1):c.298G>A (p.Ala100Thr) rs772576699 0.00003
NM_002528.7(NTHL1):c.366C>A (p.Tyr122Ter) rs371328106 0.00003
NM_002528.7(NTHL1):c.446G>A (p.Arg149Gln) rs150437839 0.00003
NM_002528.7(NTHL1):c.577G>A (p.Gly193Ser) rs200007034 0.00003
NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter) rs919177150 0.00003
NM_002528.7(NTHL1):c.620C>T (p.Pro207Leu) rs755619109 0.00003
NM_002528.7(NTHL1):c.7G>T (p.Ala3Ser) rs753350404 0.00003
NM_002528.7(NTHL1):c.115+1G>A rs749908882 0.00002
NM_002528.7(NTHL1):c.20G>C (p.Arg7Thr) rs930166212 0.00002
NM_002528.7(NTHL1):c.242C>T (p.Pro81Leu) rs753642509 0.00002
NM_002528.7(NTHL1):c.332A>G (p.Tyr111Cys) rs138812334 0.00002
NM_002528.7(NTHL1):c.791+1G>A rs374616565 0.00002
NM_002528.7(NTHL1):c.80A>G (p.Glu27Gly) rs762937286 0.00002
NM_002528.7(NTHL1):c.832G>A (p.Gly278Ser) rs139309757 0.00002
NM_002528.7(NTHL1):c.145C>T (p.Arg49Cys) rs371105614 0.00001
NM_002528.7(NTHL1):c.256C>T (p.Gln86Ter) rs2084372140 0.00001
NM_002528.7(NTHL1):c.32G>A (p.Arg11Gln) rs372992221 0.00001
NM_002528.7(NTHL1):c.388C>G (p.Leu130Val) rs1177580110 0.00001
NM_002528.7(NTHL1):c.419C>T (p.Ala140Val) rs750992242 0.00001
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter) rs374489979 0.00001
NM_002528.7(NTHL1):c.443C>T (p.Ala148Val) rs748576083 0.00001
NM_002528.7(NTHL1):c.46G>C (p.Gly16Arg) rs1271271380 0.00001
NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter) rs1198246754 0.00001
NM_002528.7(NTHL1):c.488C>T (p.Thr163Met) rs766136810 0.00001
NM_002528.7(NTHL1):c.491T>C (p.Leu164Pro) rs1162857718 0.00001
NM_002528.7(NTHL1):c.613G>A (p.Ala205Thr) rs772432408 0.00001
NM_002528.7(NTHL1):c.614C>T (p.Ala205Val) rs748719278 0.00001
NM_002528.7(NTHL1):c.625G>A (p.Val209Ile) rs780658029 0.00001
NM_002528.7(NTHL1):c.637A>G (p.Met213Val) rs756963327 0.00001
NM_002528.7(NTHL1):c.680G>A (p.Gly227Asp) rs1055874267 0.00001
NM_002528.7(NTHL1):c.685+1G>A rs372946560 0.00001
NM_002528.7(NTHL1):c.703C>T (p.His235Tyr) rs1169959065 0.00001
NM_002528.7(NTHL1):c.713C>T (p.Ala238Val) rs1185854795 0.00001
NM_002528.7(NTHL1):c.795del (p.Glu265fs) rs1173366565 0.00001
NM_002528.7(NTHL1):c.806A>T (p.Glu269Val) rs369032190 0.00001
NM_002528.7(NTHL1):c.812A>G (p.Asn271Ser) rs149287105 0.00001
NM_002528.7(NTHL1):c.89C>T (p.Pro30Leu) rs759555861 0.00001
NM_002528.7(NTHL1):c.94C>T (p.Arg32Trp) rs1285624591 0.00001
NM_002528.7(NTHL1):c.98G>A (p.Arg33Lys) rs1421779919 0.00001
NM_002528.7(NTHL1):c.-22G>T
NM_002528.7(NTHL1):c.-9G>T
NM_002528.7(NTHL1):c.105G>C (p.Glu35Asp) rs1596227700
NM_002528.7(NTHL1):c.115+2T>G
NM_002528.7(NTHL1):c.115+9G>A rs1393884097
NM_002528.7(NTHL1):c.116-1G>A rs1411394625
NM_002528.7(NTHL1):c.116-2A>C
NM_002528.7(NTHL1):c.116-9T>A rs1596223613
NM_002528.7(NTHL1):c.11T>A (p.Leu4Ter) rs1413587495
NM_002528.7(NTHL1):c.138del (p.Pro46_Val47insTer)
NM_002528.7(NTHL1):c.155A>C (p.Lys52Thr)
NM_002528.7(NTHL1):c.160C>T (p.Gln54Ter) rs1596223384
NM_002528.7(NTHL1):c.160_161del (p.Gln54fs) rs2150947238
NM_002528.7(NTHL1):c.164_165del (p.Arg55fs) rs1290880136
NM_002528.7(NTHL1):c.170G>T (p.Arg57Leu) rs774831009
NM_002528.7(NTHL1):c.172G>T (p.Val58Leu) rs1177326558
NM_002528.7(NTHL1):c.185del (p.Gly62fs)
NM_002528.7(NTHL1):c.190G>T (p.Asp64Tyr)
NM_002528.7(NTHL1):c.199A>T (p.Lys67Ter)
NM_002528.7(NTHL1):c.203del (p.Gly68fs) rs1555492819
NM_002528.7(NTHL1):c.211dup (p.Ala71fs) rs745671590
NM_002528.7(NTHL1):c.226del (p.Val76fs)
NM_002528.7(NTHL1):c.22A>C (p.Met8Leu) rs1596228289
NM_002528.7(NTHL1):c.232del (p.Val78fs) rs1314290585
NM_002528.7(NTHL1):c.241C>G (p.Pro81Ala) rs1397863507
NM_002528.7(NTHL1):c.265dup (p.Val89fs) rs2150945928
NM_002528.7(NTHL1):c.305_315del (p.Val102fs)
NM_002528.7(NTHL1):c.322G>A (p.Glu108Lys) rs1596222596
NM_002528.7(NTHL1):c.322G>T (p.Glu108Ter)
NM_002528.7(NTHL1):c.343G>A (p.Ala115Thr)
NM_002528.7(NTHL1):c.349C>A (p.Pro117Thr) rs149277519
NM_002528.7(NTHL1):c.349C>G (p.Pro117Ala) rs149277519
NM_002528.7(NTHL1):c.349C>T (p.Pro117Ser) rs149277519
NM_002528.7(NTHL1):c.34_53dup (p.Pro21fs)
NM_002528.7(NTHL1):c.350C>T (p.Pro117Leu) rs777263711
NM_002528.7(NTHL1):c.350del (p.Pro117fs) rs763525759
NM_002528.7(NTHL1):c.350dup (p.Val119fs) rs763525759
NM_002528.7(NTHL1):c.353dup (p.Val119fs)
NM_002528.7(NTHL1):c.354+1G>A rs1377633383
NM_002528.7(NTHL1):c.354+2T>C rs1239874051
NM_002528.7(NTHL1):c.354+5G>A rs2084360650
NM_002528.7(NTHL1):c.354+65C>G
NM_002528.7(NTHL1):c.355-27C>G
NM_002528.7(NTHL1):c.355G>T (p.Val119Leu) rs536140679
NM_002528.7(NTHL1):c.356_359dup (p.Arg121fs) rs759955745
NM_002528.7(NTHL1):c.357dup (p.Arg120fs)
NM_002528.7(NTHL1):c.358C>T (p.Arg120Cys) rs370228590
NM_002528.7(NTHL1):c.35_48dup (p.Pro17fs)
NM_002528.7(NTHL1):c.366C>G (p.Tyr122Ter) rs371328106
NM_002528.7(NTHL1):c.382C>G (p.Leu128Val) rs1433716256
NM_002528.7(NTHL1):c.391_392del (p.Ser131fs) rs1596220478
NM_002528.7(NTHL1):c.397C>T (p.Gln133Ter)
NM_002528.7(NTHL1):c.409C>T (p.Gln137Ter) rs758667255
NM_002528.7(NTHL1):c.410A>T (p.Gln137Leu) rs2084318917
NM_002528.7(NTHL1):c.428dup (p.Met143fs)
NM_002528.7(NTHL1):c.452_462del (p.Leu151fs)
NM_002528.7(NTHL1):c.455C>A (p.Thr152Lys) rs756403102
NM_002528.7(NTHL1):c.457G>T (p.Val153Leu) rs781629683
NM_002528.7(NTHL1):c.460del (p.Asp154fs) rs1596220332
NM_002528.7(NTHL1):c.469del (p.Leu157fs)
NM_002528.7(NTHL1):c.477_480del (p.Asp160fs)
NM_002528.7(NTHL1):c.48_60dup (p.Pro21fs)
NM_002528.7(NTHL1):c.499C>G (p.Leu167Val) rs772100661
NM_002528.7(NTHL1):c.507C>A (p.Tyr169Ter)
NM_002528.7(NTHL1):c.510del (p.Val171fs) rs1567369975
NM_002528.7(NTHL1):c.511G>A (p.Val171Ile) rs561923127
NM_002528.7(NTHL1):c.511G>C (p.Val171Leu) rs561923127
NM_002528.7(NTHL1):c.521G>A (p.Trp174Ter)
NM_002528.7(NTHL1):c.525+2T>G rs2150942179
NM_002528.7(NTHL1):c.526-1G>T rs779757251
NM_002528.7(NTHL1):c.530A>G (p.Lys177Arg) rs1463175465
NM_002528.7(NTHL1):c.530del (p.Lys177fs)
NM_002528.7(NTHL1):c.542del (p.Ile181fs)
NM_002528.7(NTHL1):c.559_562del (p.Ile187fs)
NM_002528.7(NTHL1):c.565C>T (p.Gln189Ter)
NM_002528.7(NTHL1):c.568C>T (p.Gln190Ter) rs1455020789
NM_002528.7(NTHL1):c.571C>T (p.His191Tyr)
NM_002528.7(NTHL1):c.592G>C (p.Ala198Pro) rs776654917
NM_002528.7(NTHL1):c.604G>A (p.Glu202Lys) rs919177150
NM_002528.7(NTHL1):c.614C>A (p.Ala205Glu) rs748719278
NM_002528.7(NTHL1):c.625_626del (p.Val209fs) rs2150941243
NM_002528.7(NTHL1):c.634A>C (p.Lys212Gln) rs1247089981
NM_002528.7(NTHL1):c.639G>A (p.Met213Ile)
NM_002528.7(NTHL1):c.644A>G (p.His215Arg) rs2084298229
NM_002528.7(NTHL1):c.661G>A (p.Ala221Thr) rs1596219280
NM_002528.7(NTHL1):c.661G>T (p.Ala221Ser) rs1596219280
NM_002528.7(NTHL1):c.666G>A (p.Trp222Ter)
NM_002528.7(NTHL1):c.668del (p.Gly223fs)
NM_002528.7(NTHL1):c.671C>T (p.Thr224Ile) rs1596219266
NM_002528.7(NTHL1):c.673G>A (p.Val225Met) rs766473490
NM_002528.7(NTHL1):c.68G>A (p.Gly23Glu) rs749963973
NM_002528.7(NTHL1):c.693C>A (p.Asp231Glu) rs750490014
NM_002528.7(NTHL1):c.704A>C (p.His235Pro) rs2150938418
NM_002528.7(NTHL1):c.709dup (p.Ile237fs) rs2150938411
NM_002528.7(NTHL1):c.716del (p.Asn239fs)
NM_002528.7(NTHL1):c.729G>A (p.Trp243Ter)
NM_002528.7(NTHL1):c.730_731del (p.Thr244fs)
NM_002528.7(NTHL1):c.731C>T (p.Thr244Ile) rs145312239
NM_002528.7(NTHL1):c.736A>T (p.Lys246Ter) rs879181418
NM_002528.7(NTHL1):c.745A>T (p.Lys249Ter) rs2150938327
NM_002528.7(NTHL1):c.761C>T (p.Thr254Ile) rs749047684
NM_002528.7(NTHL1):c.763del (p.Arg255fs)
NM_002528.7(NTHL1):c.763dup (p.Arg255fs)
NM_002528.7(NTHL1):c.769G>C (p.Ala257Pro) rs148474733
NM_002528.7(NTHL1):c.778G>A (p.Glu260Lys)
NM_002528.7(NTHL1):c.786_791+20del
NM_002528.7(NTHL1):c.791+2T>C rs2084241095
NM_002528.7(NTHL1):c.792-1G>A
NM_002528.7(NTHL1):c.796_808del (p.Leu266fs)
NM_002528.7(NTHL1):c.797T>A (p.Leu266Gln)
NM_002528.7(NTHL1):c.805G>T (p.Glu269Ter)
NM_002528.7(NTHL1):c.80delinsGG (p.Glu27fs) rs2084517687
NM_002528.7(NTHL1):c.84del (p.Pro30fs) rs2150957715
NM_002528.7(NTHL1):c.862C>T (p.Arg288Cys) rs571813695
NM_002528.7(NTHL1):c.887C>T (p.Ala296Val) rs2084236411
NM_002528.7(NTHL1):c.889C>T (p.Leu297Phe)
NM_002528.7(NTHL1):c.899C>A (p.Ala300Asp)
NM_002528.7(NTHL1):c.904C>T (p.Gln302Ter)

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