List of variants in gene NTHL1 reported as uncertain significance for Familial adenomatous polyposis 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 102

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HGVS	dbSNP	gnomAD frequency
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr)	rs1805378	0.00155
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.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.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.298G>A (p.Ala100Thr)	rs772576699	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.620C>T (p.Pro207Leu)	rs755619109	0.00003
NM_002528.7(NTHL1):c.7G>T (p.Ala3Ser)	rs753350404	0.00003
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.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.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.443C>T (p.Ala148Val)	rs748576083	0.00001
NM_002528.7(NTHL1):c.46G>C (p.Gly16Arg)	rs1271271380	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.703C>T (p.His235Tyr)	rs1169959065	0.00001
NM_002528.7(NTHL1):c.713C>T (p.Ala238Val)	rs1185854795	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.105G>C (p.Glu35Asp)	rs1596227700
NM_002528.7(NTHL1):c.116-9T>A	rs1596223613
NM_002528.7(NTHL1):c.155A>C (p.Lys52Thr)
NM_002528.7(NTHL1):c.170G>T (p.Arg57Leu)	rs774831009
NM_002528.7(NTHL1):c.190G>T (p.Asp64Tyr)
NM_002528.7(NTHL1):c.22A>C (p.Met8Leu)	rs1596228289
NM_002528.7(NTHL1):c.241C>G (p.Pro81Ala)	rs1397863507
NM_002528.7(NTHL1):c.322G>A (p.Glu108Lys)	rs1596222596
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.350C>T (p.Pro117Leu)	rs777263711
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.358C>T (p.Arg120Cys)	rs370228590
NM_002528.7(NTHL1):c.382C>G (p.Leu128Val)	rs1433716256
NM_002528.7(NTHL1):c.410A>T (p.Gln137Leu)	rs2084318917
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.499C>G (p.Leu167Val)	rs772100661
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.530A>G (p.Lys177Arg)	rs1463175465
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.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.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.731C>T (p.Thr244Ile)	rs145312239
NM_002528.7(NTHL1):c.761C>T (p.Thr254Ile)	rs749047684
NM_002528.7(NTHL1):c.769G>C (p.Ala257Pro)	rs148474733
NM_002528.7(NTHL1):c.778G>A (p.Glu260Lys)
NM_002528.7(NTHL1):c.797T>A (p.Leu266Gln)
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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