List of variants in gene TTR reported by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 84

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000371.4(TTR):c.337-18G>C	rs36204272	0.06198
NM_000371.4(TTR):c.76G>A (p.Gly26Ser)	rs1800458	0.05309
NM_000371.4(TTR):c.201-76T>A	rs59882235	0.04134
NM_000371.4(TTR):c.*21C>A	rs12226	0.02158
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00501
NM_000371.4(TTR):c.336+19G>A	rs75517067	0.00309
NM_000371.4(TTR):c.416C>T (p.Thr139Met)	rs28933981	0.00177
NM_000371.4(TTR):c.360C>T (p.Ser120=)	rs150127220	0.00128
NM_000371.4(TTR):c.417G>A (p.Thr139=)	rs2276382	0.00104
NM_000371.4(TTR):c.3_11del	rs143948820	0.00076
NM_000371.4(TTR):c.328C>A (p.His110Asn)	rs121918074	0.00040
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)	rs138065384	0.00019
NM_000371.4(TTR):c.368G>A (p.Arg123His)	rs148538950	0.00019
NM_000371.4(TTR):c.371G>A (p.Arg124His)	rs121918095	0.00019
NM_000371.4(TTR):c.14G>A (p.Arg5His)	rs138657343	0.00017
NM_000371.4(TTR):c.384C>T (p.Ala128=)	rs143906738	0.00015
NM_000371.4(TTR):c.140A>G (p.Asn47Ser)	rs145551875	0.00010
NM_000371.4(TTR):c.354C>T (p.Asn118=)	rs11541797	0.00009
NM_000371.4(TTR):c.280G>C (p.Asp94His)	rs730881164	0.00007
NM_000371.4(TTR):c.355G>A (p.Asp119Asn)	rs76410435	0.00006
NM_000371.4(TTR):c.385G>A (p.Ala129Thr)	rs267607159	0.00005
NM_000371.4(TTR):c.437A>G (p.Lys146Arg)	rs536294863	0.00005
NM_000371.4(TTR):c.148G>A (p.Val50Met)	rs28933979	0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)	rs121918085	0.00004
NM_000371.4(TTR):c.375C>T (p.Tyr125=)	rs749079577	0.00004
NM_000371.4(TTR):c.-15C>T	rs746692906	0.00003
NM_000371.4(TTR):c.267C>T (p.Tyr89=)	rs757950308	0.00003
NM_000371.4(TTR):c.370C>T (p.Arg124Cys)	rs745834030	0.00003
NM_000371.4(TTR):c.70-20C>T	rs773578107	0.00003
NM_000371.4(TTR):c.70-9T>C	rs764059061	0.00003
NM_000371.4(TTR):c.*118G>A	rs945422485	0.00002
NM_000371.4(TTR):c.-3A>G	rs745422404	0.00002
NM_000371.4(TTR):c.209G>A (p.Ser70Asn)	rs121918080	0.00002
NM_000371.4(TTR):c.439G>T (p.Glu147Ter)	rs730881162	0.00002
NM_000371.4(TTR):c.441A>G (p.Glu147=)	rs370056601	0.00002
NM_000371.4(TTR):c.78T>C (p.Gly26=)	rs779457244	0.00002
NM_000371.4(TTR):c.118G>A (p.Val40Ile)	rs121918093	0.00001
NM_000371.4(TTR):c.121C>A (p.Arg41=)	rs1004021945	0.00001
NM_000371.4(TTR):c.130C>T (p.Pro44Ser)	rs11541790	0.00001
NM_000371.4(TTR):c.136A>G (p.Ile46Val)	rs773584864	0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)	rs121918070	0.00001
NM_000371.4(TTR):c.24C>T (p.Leu8=)	rs991342939	0.00001
NM_000371.4(TTR):c.25C>T (p.Leu9Phe)	rs762243340	0.00001
NM_000371.4(TTR):c.293A>T (p.Tyr98Phe)	rs958191819	0.00001
NM_000371.4(TTR):c.301G>A (p.Ala101Thr)	rs730881165	0.00001
NM_000371.4(TTR):c.337-3T>C	rs774027595	0.00001
NM_000371.4(TTR):c.40C>T (p.Leu14=)	rs1347695561	0.00001
NM_000371.4(TTR):c.68C>T (p.Thr23Met)	rs377052919	0.00001
NM_000371.4(TTR):c.69G>A (p.Thr23=)	rs752579437	0.00001
NM_000371.4(TTR):c.70-16T>C	rs759512847	0.00001
NM_000371.3(TTR):c.-102G>T	rs967658213
NM_000371.3(TTR):c.-46C>T	rs750577317
NM_000371.4(TTR):c.*100A>G	rs2144414665
NM_000371.4(TTR):c.*9TCC[1]	rs766223850
NM_000371.4(TTR):c.11_13dup (p.His4dup)	rs747545126
NM_000371.4(TTR):c.122G>A (p.Arg41Gln)	rs879254269
NM_000371.4(TTR):c.157T>C (p.Phe53Leu)	rs121918068
NM_000371.4(TTR):c.194C>A (p.Ala65Asp)	rs730881169
NM_000371.4(TTR):c.211G>A (p.Glu71Lys)	rs933476040
NM_000371.4(TTR):c.216T>G (p.Ser72=)	rs1555631392
NM_000371.4(TTR):c.220_221inv (p.Glu74Ser)
NM_000371.4(TTR):c.231G>A (p.Gly77=)	rs1555631396
NM_000371.4(TTR):c.233T>A (p.Leu78His)	rs121918069
NM_000371.4(TTR):c.236C>A (p.Thr79Lys)	rs730881163
NM_000371.4(TTR):c.250T>C (p.Phe84Leu)	rs121918091
NM_000371.4(TTR):c.283A>T (p.Thr95Ser)	rs730881170
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)	rs121918071
NM_000371.4(TTR):c.296G>A (p.Trp99Ter)	rs730881171
NM_000371.4(TTR):c.302C>T (p.Ala101Val)	rs1555631417
NM_000371.4(TTR):c.304C>T (p.Leu102Phe)	rs1131692003
NM_000371.4(TTR):c.325G>C (p.Glu109Gln)	rs121918082
NM_000371.4(TTR):c.337-14_337-11del	rs112263266
NM_000371.4(TTR):c.372C>G (p.Arg124=)	rs780119793
NM_000371.4(TTR):c.379A>G (p.Ile127Val)	rs121918089
NM_000371.4(TTR):c.383C>T (p.Ala128Val)
NM_000371.4(TTR):c.397C>T (p.Pro133Ser)	rs730881166
NM_000371.4(TTR):c.401A>G (p.Tyr134Cys)	rs121918075
NM_000371.4(TTR):c.434C>A (p.Pro145His)
NM_000371.4(TTR):c.52T>G (p.Ser18Ala)	rs730881172
NM_000371.4(TTR):c.69+10T>C	rs1179187406
NM_000371.4(TTR):c.69+7G>A	rs1453023289
NM_000371.4(TTR):c.70-19G>A	rs548935944
NM_000371.4(TTR):c.70-7C>T	rs587780990
NM_000371.4(TTR):c.83C>T (p.Ser28Phe)	rs1313375879

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.