ClinVar Miner

List of variants in gene TYMP studied for mitochondrial DNA depletion syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_001953.5(TYMP):c.516+27A>G rs470119 0.54142
NM_001953.5(TYMP):c.204C>T (p.Gly68=) rs34375653 0.01755
NM_001953.5(TYMP):c.214+13G>A rs74624637 0.00960
NM_001953.5(TYMP):c.735G>A (p.Gln245=) rs139223629 0.00222
NM_001953.5(TYMP):c.401C>T (p.Ala134Val) rs199901350 0.00044
NM_001953.5(TYMP):c.858G>A (p.Glu286=) rs372421189 0.00037
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
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.859G>A (p.Val287Met) rs781064742 0.00009
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_001953.5(TYMP):c.517-15G>A rs372690172 0.00007
NM_001953.5(TYMP):c.862G>A (p.Glu288Lys) rs755060408 0.00007
NM_001953.5(TYMP):c.193A>G (p.Ser65Gly) rs146922557 0.00006
NM_001953.5(TYMP):c.646+8G>A rs200818286 0.00006
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala) rs121913036 0.00005
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr) rs752137335 0.00004
NM_001953.5(TYMP):c.516+10G>A rs552829713 0.00004
NM_001953.5(TYMP):c.647-9C>G rs549324764 0.00004
NM_001953.5(TYMP):c.856G>A (p.Glu286Lys) rs866001342 0.00003
NM_001953.5(TYMP):c.646+1G>A rs760629248 0.00002
NM_001953.5(TYMP):c.736G>A (p.Glu246Lys) rs567858165 0.00002
NM_001953.5(TYMP):c.202G>A (p.Gly68Ser) rs760529157 0.00001
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn) rs1064792861 0.00001
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser) rs121913038 0.00001
NM_001953.5(TYMP):c.563G>C (p.Ser188Thr) rs145056860 0.00001
NM_001953.5(TYMP):c.628A>C (p.Ser210Arg) rs761665644 0.00001
NM_001953.5(TYMP):c.647-1G>A rs1295236603 0.00001
NM_001953.5(TYMP):c.647C>T (p.Ala216Val) rs1064792855 0.00001
NM_001953.5(TYMP):c.760A>C (p.Thr254Pro) rs1064792870 0.00001
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro) rs121913042 0.00001
NM_001953.5(TYMP):c.865G>A (p.Glu289Lys) rs946234163 0.00001
NM_001953.4(TYMP):c.929-3G>A
NM_001953.5(TYMP):c.112G>T (p.Glu38Ter) rs1054084896
NM_001953.5(TYMP):c.113A>G (p.Glu38Gly) rs1240133140
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer) rs764792655
NM_001953.5(TYMP):c.131G>A (p.Arg44Gln) rs28931613
NM_001953.5(TYMP):c.146T>G (p.Leu49Arg) rs1064792857
NM_001953.5(TYMP):c.162C>G (p.Ile54Met) rs1064792858
NM_001953.5(TYMP):c.178G>A (p.Ala60Thr) rs1258773019
NM_001953.5(TYMP):c.207_214+6del
NM_001953.5(TYMP):c.20del (p.Pro7fs) rs2148683541
NM_001953.5(TYMP):c.214+1G>C
NM_001953.5(TYMP):c.214+1G>T rs1200609783
NM_001953.5(TYMP):c.214+6_214+7del rs753466981
NM_001953.5(TYMP):c.28G>C (p.Gly10Arg) rs377572658
NM_001953.5(TYMP):c.298C>T (p.Gln100Ter)
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)
NM_001953.5(TYMP):c.328C>T (p.Gln110Ter) rs1064792860
NM_001953.5(TYMP):c.344A>G (p.Lys115Arg) rs775841111
NM_001953.5(TYMP):c.356G>A (p.Gly119Glu)
NM_001953.5(TYMP):c.391C>A (p.Pro131Thr) rs863224255
NM_001953.5(TYMP):c.398T>C (p.Leu133Pro) rs1064792862
NM_001953.5(TYMP):c.401C>A (p.Ala134Glu) rs199901350
NM_001953.5(TYMP):c.417+1G>A rs1603442040
NM_001953.5(TYMP):c.417+2T>G
NM_001953.5(TYMP):c.418-1G>A
NM_001953.5(TYMP):c.454G>T (p.Gly152Ter)
NM_001953.5(TYMP):c.467A>G (p.Asp156Gly) rs1064792863
NM_001953.5(TYMP):c.46G>C (p.Gly16Arg) rs769568725
NM_001953.5(TYMP):c.478T>C (p.Ser160Pro) rs1064792864
NM_001953.5(TYMP):c.47G>C (p.Gly16Ala) rs781163498
NM_001953.5(TYMP):c.516+14C>T rs780757016
NM_001953.5(TYMP):c.516+2T>C rs797044454
NM_001953.5(TYMP):c.516+4C>T rs369574115
NM_001953.5(TYMP):c.518T>G (p.Met173Arg) rs1064792865
NM_001953.5(TYMP):c.520C>T (p.Gln174Ter) rs2069446068
NM_001953.5(TYMP):c.530T>C (p.Leu177Pro) rs1064792866
NM_001953.5(TYMP):c.532_548dup (p.Cys183fs)
NM_001953.5(TYMP):c.535C>T (p.Gln179Ter)
NM_001953.5(TYMP):c.536_539dup (p.Cys182fs)
NM_001953.5(TYMP):c.554_561del (p.Val185fs)
NM_001953.5(TYMP):c.586G>C (p.Gly196Arg) rs367723039
NM_001953.5(TYMP):c.605G>A (p.Arg202Lys) rs121913041
NM_001953.5(TYMP):c.605G>C (p.Arg202Thr) rs121913041
NM_001953.5(TYMP):c.623T>G (p.Val208Gly) rs1064792867
NM_001953.5(TYMP):c.647-8C>T rs753922795
NM_001953.5(TYMP):c.695T>C (p.Val232Ala) rs1294823677
NM_001953.5(TYMP):c.707T>C (p.Phe236Ser) rs1064792868
NM_001953.5(TYMP):c.715G>A (p.Ala239Thr) rs1064792869
NM_001953.5(TYMP):c.720del (p.Val241fs) rs1064792887
NM_001953.5(TYMP):c.729del (p.Asn244fs) rs755728248
NM_001953.5(TYMP):c.736G>T (p.Glu246Ter)
NM_001953.5(TYMP):c.739C>T (p.Gln247Ter)
NM_001953.5(TYMP):c.748G>T (p.Glu250Ter)
NM_001953.5(TYMP):c.752T>C (p.Leu251Pro)
NM_001953.5(TYMP):c.756A>C (p.Ala252=) rs886057635
NM_001953.5(TYMP):c.763_765del (p.Leu255del) rs1556488264
NM_001953.5(TYMP):c.765+2T>C
NM_001953.5(TYMP):c.766-10C>T rs886057634
NM_001953.5(TYMP):c.766-53C>T rs2148679059
NM_001953.5(TYMP):c.784del (p.Ser261_Leu262insTer) rs1064792888
NM_001953.5(TYMP):c.809T>C (p.Leu270Pro) rs1178421926
NM_001953.5(TYMP):c.829dup (p.Leu277fs)
NM_001953.5(TYMP):c.833G>A (p.Gly278Asp)
NM_001953.5(TYMP):c.847C>G (p.His283Asp) rs1064792871
NM_001953.5(TYMP):c.86dup (p.Ser30fs)
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) rs1064792872
NM_001953.5(TYMP):c.99dup (p.Lys34fs) rs1064792880
c.1069A>G
c.52_53delCT
c.972T>C

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