ClinVar Miner

List of variants reported as uncertain significance by Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_032578.4(MYPN):c.802C>T (p.Pro268Ser) rs201454261 0.00057
NM_001277115.2(DNAH11):c.2824C>A (p.Pro942Thr) rs189569144 0.00018
NM_001369.3(DNAH5):c.8611T>C (p.Phe2871Leu) rs138494768 0.00006
NM_003098.3(SNTA1):c.388T>C (p.Phe130Leu) rs199964677 0.00004
NM_000117.3(EMD):c.173C>T (p.Ser58Phe) rs781797234 0.00003
NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln) rs1178187217 0.00001
NM_002471.4(MYH6):c.3934C>G (p.Gln1312Glu) rs1322506642 0.00001
NM_020433.5(JPH2):c.278G>A (p.Arg93His) rs1131692244 0.00001
NM_000116.5(TAFAZZIN):c.680dup (p.Tyr227Ter) rs1557194203
NM_016203.4(PRKAG2):c.1454A>C (p.Lys485Thr) rs1554453641
NM_032588.4(TRIM63):c.115T>G (p.Cys39Gly) rs2124444993
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_170707.4(LMNA):c.1070A>T (p.Asp357Val) rs1131690785

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