List of variants in gene TTR reported as pathogenic by Invitae

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: 70

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HGVS	dbSNP	gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00501
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.118G>A (p.Val40Ile)	rs121918093	0.00001
NM_000371.4(TTR):c.130C>T (p.Pro44Ser)	rs11541790	0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)	rs121918070	0.00001
NM_000371.4(TTR):c.239C>T (p.Thr80Ile)	rs1254341785	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.349G>T (p.Ala117Ser)	rs267607161	0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg)	rs121918083	0.00001
NM_000371.4(TTR):c.112G>A (p.Asp38Asn)	rs1567945632
NM_000371.4(TTR):c.113A>G (p.Asp38Gly)	rs121918098
NM_000371.4(TTR):c.114T>A (p.Asp38Glu)	rs779619795
NM_000371.4(TTR):c.116C>A (p.Ala39Asp)	rs11541795
NM_000371.4(TTR):c.128G>A (p.Ser43Asn)	rs1598844112
NM_000371.4(TTR):c.148G>C (p.Val50Leu)	rs28933979
NM_000371.4(TTR):c.148G>T (p.Val50Leu)
NM_000371.4(TTR):c.149T>C (p.Val50Ala)	rs79977247
NM_000371.4(TTR):c.149T>G (p.Val50Gly)	rs79977247
NM_000371.4(TTR):c.157T>C (p.Phe53Leu)	rs121918068
NM_000371.4(TTR):c.160A>G (p.Arg54Gly)	rs1598844184
NM_000371.4(TTR):c.161G>C (p.Arg54Thr)	rs1598844187
NM_000371.4(TTR):c.165G>C (p.Lys55Asn)
NM_000371.4(TTR):c.165G>T (p.Lys55Asn)	rs1567945684
NM_000371.4(TTR):c.166G>C (p.Ala56Pro)	rs121918077
NM_000371.4(TTR):c.167C>A (p.Ala56Asp)	rs2073494094
NM_000371.4(TTR):c.172G>C (p.Asp58His)	rs2073494217
NM_000371.4(TTR):c.173A>C (p.Asp58Ala)	rs1598844213
NM_000371.4(TTR):c.173A>T (p.Asp58Val)	rs1598844213
NM_000371.4(TTR):c.179C>A (p.Thr60Asn)	rs113625622
NM_000371.4(TTR):c.182G>T (p.Trp61Leu)	rs1567945702
NM_000371.4(TTR):c.186G>C (p.Glu62Asp)	rs1340627860
NM_000371.4(TTR):c.186G>T (p.Glu62Asp)	rs1340627860
NM_000371.4(TTR):c.191T>C (p.Phe64Ser)	rs104894665
NM_000371.4(TTR):c.194C>T (p.Ala65Val)	rs730881169
NM_000371.4(TTR):c.200G>A (p.Gly67Glu)	rs121918090
NM_000371.4(TTR):c.206C>T (p.Thr69Ile)	rs1555631387
NM_000371.4(TTR):c.210T>A (p.Ser70Arg)	rs121918076
NM_000371.4(TTR):c.210T>G (p.Ser70Arg)	rs121918076
NM_000371.4(TTR):c.220G>C (p.Glu74Gln)	rs1555631393
NM_000371.4(TTR):c.221A>G (p.Glu74Gly)	rs1598845097
NM_000371.4(TTR):c.223C>A (p.Leu75Met)	rs2073510448
NM_000371.4(TTR):c.224T>G (p.Leu75Arg)	rs121918079
NM_000371.4(TTR):c.229G>A (p.Gly77Arg)	rs1598845111
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.244G>A (p.Glu82Lys)	rs1555631402
NM_000371.4(TTR):c.250T>C (p.Phe84Leu)	rs121918091
NM_000371.4(TTR):c.252T>G (p.Phe84Leu)	rs2073510805
NM_000371.4(TTR):c.265T>C (p.Tyr89His)	rs121918100
NM_000371.4(TTR):c.277A>G (p.Ile93Val)	rs1598845164
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)	rs121918071
NM_000371.4(TTR):c.302C>T (p.Ala101Val)	rs1555631417
NM_000371.4(TTR):c.311T>A (p.Ile104Asn)
NM_000371.4(TTR):c.311T>C (p.Ile104Thr)	rs121918072
NM_000371.4(TTR):c.311T>G (p.Ile104Ser)	rs121918072
NM_000371.4(TTR):c.323A>G (p.His108Arg)	rs2073511411
NM_000371.4(TTR):c.325G>A (p.Glu109Lys)	rs121918082
NM_000371.4(TTR):c.325G>C (p.Glu109Gln)	rs121918082
NM_000371.4(TTR):c.327G>T (p.Glu109Asp)	rs876661395
NM_000371.4(TTR):c.379A>G (p.Ile127Val)	rs121918089
NM_000371.4(TTR):c.381T>G (p.Ile127Met)	rs751430411
NM_000371.4(TTR):c.385G>T (p.Ala129Ser)	rs267607159
NM_000371.4(TTR):c.401A>G (p.Tyr134Cys)	rs121918075
NM_000371.4(TTR):c.418G>T (p.Ala140Ser)	rs876658108
NM_000371.4(TTR):c.421GTC[1] (p.Val142del)	rs121918096
NM_000371.4(TTR):c.425T>C (p.Val142Ala)	rs2144414426
NM_000371.4(TTR):c.94C>G (p.Leu32Val)	rs2144406525
NM_000371.4(TTR):c.95T>C (p.Leu32Pro)	rs121918094

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