ClinVar Miner

List of variants in gene TYMP reported as likely pathogenic for Mitochondrial DNA depletion syndrome 1

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg) rs149977726 0.00010
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn) rs1064792861 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.854T>C (p.Leu285Pro) rs121913042 0.00001
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer) rs764792655
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.298C>T (p.Gln100Ter)
NM_001953.5(TYMP):c.323G>A (p.Trp108Ter)
NM_001953.5(TYMP):c.391C>A (p.Pro131Thr) rs863224255
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.518T>G (p.Met173Arg) rs1064792865
NM_001953.5(TYMP):c.520C>T (p.Gln174Ter) rs2069446068
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.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.765+2T>C
NM_001953.5(TYMP):c.809T>C (p.Leu270Pro) rs1178421926
NM_001953.5(TYMP):c.829dup (p.Leu277fs)
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) rs1064792872

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