ClinVar Miner

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

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Minimum conflict level:
ClinVar version:
Total variants: 55
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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

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