List of variants in gene TTR reported as uncertain significance 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: 90

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000371.4(TTR):c.368G>A (p.Arg123His)	rs148538950	0.00019
NM_000371.4(TTR):c.14G>A (p.Arg5His)	rs138657343	0.00017
NM_000371.4(TTR):c.140A>G (p.Asn47Ser)	rs145551875	0.00010
NM_000371.4(TTR):c.355G>A (p.Asp119Asn)	rs76410435	0.00006
NM_000371.4(TTR):c.13C>T (p.Arg5Cys)	rs144792001	0.00005
NM_000371.4(TTR):c.385G>A (p.Ala129Thr)	rs267607159	0.00005
NM_000371.4(TTR):c.361G>A (p.Gly121Ser)	rs755337715	0.00004
NM_000371.4(TTR):c.386C>T (p.Ala129Val)	rs121918092	0.00004
NM_000371.4(TTR):c.370C>T (p.Arg124Cys)	rs745834030	0.00003
NM_000371.4(TTR):c.431A>G (p.Asn144Ser)	rs144965179	0.00003
NM_000371.4(TTR):c.209G>A (p.Ser70Asn)	rs121918080	0.00002
NM_000371.4(TTR):c.127A>C (p.Ser43Arg)	rs11541800	0.00001
NM_000371.4(TTR):c.136A>G (p.Ile46Val)	rs773584864	0.00001
NM_000371.4(TTR):c.137T>C (p.Ile46Thr)	rs1598844137	0.00001
NM_000371.4(TTR):c.151C>A (p.His51Asn)	rs915983905	0.00001
NM_000371.4(TTR):c.170C>A (p.Ala57Asp)	rs1294297409	0.00001
NM_000371.4(TTR):c.200+4A>G	rs751512499	0.00001
NM_000371.4(TTR):c.227A>G (p.His76Arg)	rs78230119	0.00001
NM_000371.4(TTR):c.246G>C (p.Glu82Asp)	rs754635255	0.00001
NM_000371.4(TTR):c.25C>T (p.Leu9Phe)	rs762243340	0.00001
NM_000371.4(TTR):c.263T>C (p.Ile88Thr)	rs1567946180	0.00001
NM_000371.4(TTR):c.314C>T (p.Ser105Phe)	rs1322942118	0.00001
NM_000371.4(TTR):c.336+5G>A	rs2073511528	0.00001
NM_000371.4(TTR):c.337-3T>C	rs774027595	0.00001
NM_000371.4(TTR):c.367C>T (p.Arg123Cys)	rs371566010	0.00001
NM_000371.4(TTR):c.406T>C (p.Tyr136His)	rs766909913	0.00001
NM_000371.4(TTR):c.65C>T (p.Pro22Leu)	rs1215630426	0.00001
NM_000371.4(TTR):c.68C>T (p.Thr23Met)	rs377052919	0.00001
NM_000371.4(TTR):c.69+5G>C	rs1221178462	0.00001
NM_000371.4(TTR):c.69G>A (p.Thr23=)	rs752579437	0.00001
NC_000018.10:g.(?_31591160)_(31598685_?)dup
NM_000371.4(TTR):c.110T>C (p.Leu37Pro)
NM_000371.4(TTR):c.116_117insAGTCCTCGGTCAA (p.Arg41fs)
NM_000371.4(TTR):c.11A>T (p.His4Leu)	rs1157253322
NM_000371.4(TTR):c.11_13del (p.His4del)	rs747545126
NM_000371.4(TTR):c.11_13dup (p.His4dup)	rs747545126
NM_000371.4(TTR):c.121C>T (p.Arg41Ter)	rs1004021945
NM_000371.4(TTR):c.122G>A (p.Arg41Gln)	rs879254269
NM_000371.4(TTR):c.124G>A (p.Gly42Ser)	rs2144406621
NM_000371.4(TTR):c.12T>A (p.His4Gln)	rs2144405297
NM_000371.4(TTR):c.13C>G (p.Arg5Gly)	rs144792001
NM_000371.4(TTR):c.151C>G (p.His51Asp)
NM_000371.4(TTR):c.151C>T (p.His51Tyr)
NM_000371.4(TTR):c.169G>A (p.Ala57Thr)	rs1380447419
NM_000371.4(TTR):c.171TGA[1] (p.Asp59del)	rs1555631238
NM_000371.4(TTR):c.184G>A (p.Glu62Lys)
NM_000371.4(TTR):c.200+2T>C	rs1567945737
NM_000371.4(TTR):c.201-1G>A	rs2144409397
NM_000371.4(TTR):c.211G>A (p.Glu71Lys)	rs933476040
NM_000371.4(TTR):c.212A>C (p.Glu71Ala)
NM_000371.4(TTR):c.242A>G (p.Glu81Gly)	rs1567946170
NM_000371.4(TTR):c.270dup (p.Val91fs)
NM_000371.4(TTR):c.296G>C (p.Trp99Ser)	rs730881171
NM_000371.4(TTR):c.304C>T (p.Leu102Phe)	rs1131692003
NM_000371.4(TTR):c.305T>C (p.Leu102Pro)
NM_000371.4(TTR):c.316C>G (p.Pro106Ala)
NM_000371.4(TTR):c.335A>G (p.Glu112Gly)
NM_000371.4(TTR):c.337-3T>G
NM_000371.4(TTR):c.337-527_349del	rs2073525314
NM_000371.4(TTR):c.339G>A (p.Val113=)
NM_000371.4(TTR):c.340G>T (p.Val114Leu)	rs2073528142
NM_000371.4(TTR):c.347C>G (p.Thr116Arg)
NM_000371.4(TTR):c.34G>T (p.Ala12Ser)	rs1567945391
NM_000371.4(TTR):c.35C>A (p.Ala12Asp)	rs2073488167
NM_000371.4(TTR):c.35C>T (p.Ala12Val)
NM_000371.4(TTR):c.361G>C (p.Gly121Arg)
NM_000371.4(TTR):c.365C>G (p.Pro122Arg)	rs11541793
NM_000371.4(TTR):c.365C>T (p.Pro122Leu)
NM_000371.4(TTR):c.367C>G (p.Arg123Gly)
NM_000371.4(TTR):c.373T>C (p.Tyr125His)	rs2073528574
NM_000371.4(TTR):c.37G>A (p.Gly13Arg)	rs767889884
NM_000371.4(TTR):c.382G>A (p.Ala128Thr)	rs2073528679
NM_000371.4(TTR):c.383C>T (p.Ala128Val)
NM_000371.4(TTR):c.408T>G (p.Tyr136Ter)
NM_000371.4(TTR):c.427A>G (p.Thr143Ala)
NM_000371.4(TTR):c.433C>T (p.Pro145Ser)
NM_000371.4(TTR):c.434C>A (p.Pro145His)
NM_000371.4(TTR):c.62G>C (p.Gly21Ala)	rs1469623969
NM_000371.4(TTR):c.65del (p.Pro22fs)
NM_000371.4(TTR):c.69+1G>A	rs1598843674
NM_000371.4(TTR):c.69+4_69+7del
NM_000371.4(TTR):c.69+6T>C
NM_000371.4(TTR):c.69G>C (p.Thr23=)	rs752579437
NM_000371.4(TTR):c.70-20del
NM_000371.4(TTR):c.71G>A (p.Gly24Asp)
NM_000371.4(TTR):c.74C>T (p.Thr25Ile)	rs2073492897
NM_000371.4(TTR):c.83C>T (p.Ser28Phe)	rs1313375879
NM_000371.4(TTR):c.85A>G (p.Lys29Glu)	rs1323375123
NM_000371.4(TTR):c.91C>T (p.Pro31Ser)	rs2144406521
NM_000371.4(TTR):c.98T>A (p.Met33Lys)

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.