ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome 1 by Counsyl

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_001953.5(TYMP):c.1159+5G>A rs748559929 0.00030
NM_001953.5(TYMP):c.1441C>T (p.Gln481Ter) rs200735968 0.00011
NM_001953.5(TYMP):c.437G>A (p.Arg146His) rs188802138 0.00011
NM_001953.5(TYMP):c.215-1G>C rs767245071 0.00004
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.1308dup (p.Trp437fs) rs1471478620

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