ClinVar Miner

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

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_032578.4(MYPN):c.802C>T (p.Pro268Ser) rs201454261 0.00057
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly) rs138815960 0.00021
NM_001277115.2(DNAH11):c.2824C>A (p.Pro942Thr) rs189569144 0.00018
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His) rs200321595 0.00011
NM_001369.3(DNAH5):c.8611T>C (p.Phe2871Leu) rs138494768 0.00006
NM_032588.4(TRIM63):c.224G>A (p.Cys75Tyr) rs200811483 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_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_032578.4(MYPN):c.458A>G (p.Lys153Arg) rs199476401 0.00002
NM_000432.4(MYL2):c.3G>A (p.Met1Ile) rs1555258369 0.00001
NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln) rs1178187217 0.00001
NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter) rs756032160 0.00001
NM_001369.3(DNAH5):c.8440_8447del (p.Lys2813_Glu2814insTer) rs755136231 0.00001
NM_002471.4(MYH6):c.3934C>G (p.Gln1312Glu) rs1322506642 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_020433.5(JPH2):c.278G>A (p.Arg93His) rs1131692244 0.00001
NM_000116.5(TAFAZZIN):c.680dup (p.Tyr227Ter) rs1557194203
NM_000117.3(EMD):c.449+1G>A rs2148128756
NM_000117.3(EMD):c.631del (p.Arg211fs) rs2148128957
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001270974.2(HYDIN):c.10949-2A>G
NM_001270974.2(HYDIN):c.1797C>G (p.Tyr599Ter)
NM_001277115.2(DNAH11):c.3910del (p.Arg1304fs)
NM_001277115.2(DNAH11):c.4231_4235del (p.His1411fs)
NM_001277115.2(DNAH11):c.7833_7837dup (p.Lys2613fs)
NM_001369.3(DNAH5):c.2052+3G>T
NM_001369.3(DNAH5):c.3599-2A>G
NM_001458.5(FLNC):c.3547_3548delinsCT (p.Ala1183Leu) rs1131692185
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001458.5(FLNC):c.6892C>T (p.Pro2298Ser) rs1554401403
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_004333.6(BRAF):c.2128-4_2129del rs1131692058
NM_004415.4(DSP):c.5051A>G (p.His1684Arg) rs1135401735
NM_005188.4(CBL):c.1754G>T (p.Arg585Leu) rs727504640
NM_012472.6(DNAAF11):c.79_80del (p.Ser27fs) rs769220870
NM_016203.4(PRKAG2):c.1454A>C (p.Lys485Thr) rs1554453641
NM_031421.5(ODAD4):c.704dup (p.His235fs)
NM_031427.4(DNAL1):c.23_24del (p.Lys8fs)
NM_032588.4(TRIM63):c.115T>G (p.Cys39Gly) rs2124444993
NM_032588.4(TRIM63):c.481_482del (p.Ser161fs) rs540072010
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_032930.3(CFAP300):c.198_200delinsCC (p.Phe67fs) rs1555069023
NM_170707.4(LMNA):c.1070A>T (p.Asp357Val) rs1131690785
NM_170707.4(LMNA):c.234G>T (p.Lys78Asn) rs727505038
NM_170707.4(LMNA):c.305T>C (p.Leu102Pro) rs1553262007
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535

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