ClinVar Miner

List of variants reported by Center for Neuroscience and Cell Biology, University of Coimbra, Portugal

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NC_012920.1:m.11815C>G rs879025367
NC_012920.1:m.11896C>G rs1057516065
NC_012920.1:m.12010C>T rs1057516066
NC_012920.1:m.12013A>G rs1057516067
NC_012920.1:m.12018C>G rs1057516068
NC_012920.1:m.13713C>A rs879193643
NC_012920.1:m.14563C>T rs1057516069
NC_012920.1:m.14706A>G rs1057516070
NC_012920.1:m.14771C>A rs1556424489
NC_012920.1:m.14854C>T rs1057516071
NC_012920.1:m.15060G>A rs1057516072
NC_012920.1:m.15096T>C rs1057516073
NC_012920.1:m.15127C>T rs1057516074
NC_012920.1:m.15246G>A rs1057516075
NC_012920.1:m.1655A>G rs1057516056
NC_012920.1:m.1661A>G rs1057516055
NC_012920.1:m.3275C>T rs1057516057
NC_012920.1:m.3624A>G rs1057516058
NC_012920.1:m.4664C>T rs1057516059
NC_012920.1:m.7373A>G rs1057516060
NC_012920.1:m.7486G>A rs1556423295
NC_012920.1:m.7496T>C rs1057516061
NC_012920.1:m.8418T>C rs1057516062
NC_012920.1:m.9166T>C rs1057516063
NC_012920.1:m.9237G>A rs1057516064
NM_002397.4(MEF2C):c.-510_-497delTCTTCCTCCTCCTC rs1085307051
NM_002397.5(MEF2C):c.-208del rs886060864
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_024120.5(NDUFAF5):c.1029dup (p.Ser344fs) rs778575439
NM_024120.5(NDUFAF5):c.290G>A (p.Gly97Asp) rs1555830705

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