ClinVar Miner

List of variants studied for Mitochondrial DNA depletion syndrome 13 by Revvity Omics, Revvity

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001278716.2(FBXL4):c.1388T>C (p.Met463Thr) rs146638016 0.00047
NM_001278716.2(FBXL4):c.1103+13C>T rs182076681 0.00016
NM_001278716.2(FBXL4):c.527G>C (p.Trp176Ser) rs201858974 0.00016
NM_001278716.2(FBXL4):c.1232G>A (p.Cys411Tyr) rs773850151 0.00014
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys) rs778692687 0.00005
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter) rs201889294 0.00004
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter) rs1554222130 0.00001
NM_001278716.2(FBXL4):c.776T>C (p.Met259Thr) rs376909719 0.00001
NM_001278716.2(FBXL4):c.1155C>G (p.Ser385Arg)
NM_001278716.2(FBXL4):c.1317+137T>C
NM_001278716.2(FBXL4):c.1390-2172C>T
NM_001278716.2(FBXL4):c.1465T>G (p.Cys489Gly)
NM_001278716.2(FBXL4):c.1721C>T (p.Pro574Leu) rs779731686

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