ClinVar Miner

List of variants studied for Mitochondrial neurogastrointestinal encephalomyopathy by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001953.5(TYMP):c.1284T>A (p.Gly428=) rs1138404 0.14075
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
NM_001953.5(TYMP):c.204C>T (p.Gly68=) rs34375653 0.01755
NM_001953.5(TYMP):c.735G>A (p.Gln245=) rs139223629 0.00222
NM_001953.5(TYMP):c.1290G>A (p.Arg430=) rs570574111 0.00173
NM_001953.5(TYMP):c.1295G>A (p.Arg432His) rs551975117 0.00056
NM_001953.5(TYMP):c.401C>T (p.Ala134Val) rs199901350 0.00044
NM_001953.5(TYMP):c.1189C>T (p.Leu397=) rs777564992 0.00041
NM_001953.5(TYMP):c.858G>A (p.Glu286=) rs372421189 0.00037
NM_001953.5(TYMP):c.1159+5G>A rs748559929 0.00030
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) rs377497287 0.00030
NM_001953.5(TYMP):c.1176C>T (p.Val392=) rs770533125 0.00021
NM_001953.5(TYMP):c.1242G>A (p.Pro414=) rs1013301590 0.00016
NM_001953.5(TYMP):c.437G>A (p.Arg146His) rs188802138 0.00011
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) rs149977726 0.00010
NM_001953.5(TYMP):c.1185G>A (p.Leu395=) rs748898877 0.00007
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_001953.5(TYMP):c.495T>C (p.Asn165=) rs372889443 0.00005
NM_001953.5(TYMP):c.516+9C>T rs201884709 0.00005
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) rs121913036 0.00005
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_001953.5(TYMP):c.1301-9G>A rs548524392 0.00004
NM_001953.5(TYMP):c.177C>T (p.Ala59=) rs137930991 0.00004
NM_001953.5(TYMP):c.215-1G>C rs767245071 0.00004
NM_001953.5(TYMP):c.647-9C>G rs549324764 0.00004
NM_001953.5(TYMP):c.1087G>A (p.Gly363Arg) rs863224253 0.00003
NM_001953.5(TYMP):c.586G>A (p.Gly196Arg) rs367723039 0.00003
NM_001953.5(TYMP):c.683C>G (p.Ser228Cys) rs763471000 0.00003
NM_001953.5(TYMP):c.1266G>A (p.Glu422=) rs932099850 0.00002
NM_001953.5(TYMP):c.594A>G (p.Leu198=) rs753241194 0.00002
NM_001953.5(TYMP):c.1030G>C (p.Glu344Gln) rs1085307802 0.00001
NM_001953.5(TYMP):c.1209G>A (p.Glu403=) rs752674133 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_001953.5(TYMP):c.1404C>T (p.Ala468=) rs1159355069 0.00001
NM_001953.5(TYMP):c.198G>A (p.Ala66=) rs1172184794 0.00001
NM_001953.5(TYMP):c.281C>T (p.Ala94Val) rs863224249 0.00001
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser) rs121913038 0.00001
NM_001953.5(TYMP):c.762G>A (p.Thr254=) rs373478014 0.00001
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.1040dup (p.Ala348fs) rs1603441848
NM_001953.5(TYMP):c.1217C>A (p.Ala406Asp) rs2069353068
NM_001953.5(TYMP):c.1219G>C (p.Gly407Arg) rs863224254
NM_001953.5(TYMP):c.1225A>G (p.Ser409Gly) rs2069352300
NM_001953.5(TYMP):c.1273G>A (p.Val425Ile) rs2069348232
NM_001953.5(TYMP):c.131G>C (p.Arg44Pro) rs28931613
NM_001953.5(TYMP):c.1321C>T (p.His441Tyr) rs781153870
NM_001953.5(TYMP):c.135C>T (p.Asp45=) rs1035604323
NM_001953.5(TYMP):c.1439C>G (p.Pro480Arg) rs863224256
NM_001953.5(TYMP):c.194G>A (p.Ser65Asn) rs570047465
NM_001953.5(TYMP):c.402G>C (p.Ala134=) rs747718279
NM_001953.5(TYMP):c.418-7C>T rs2069479747
NM_001953.5(TYMP):c.516+2T>A rs797044454
NM_001953.5(TYMP):c.647-6C>G rs1323542953
NM_001953.5(TYMP):c.910G>A (p.Asp304Asn) rs570438867

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.