ClinVar Miner

List of variants reported as likely pathogenic by Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) rs373584456 0.00002
NM_001386795.1(DTNA):c.1692G>C (p.Glu564Asp) rs1477078144 0.00001
NM_001458.5(FLNC):c.1216G>A (p.Gly406Ser) rs1343684536 0.00001
NM_016938.5(EFEMP2):c.247C>T (p.Arg83Cys) rs554639118 0.00001
NM_000138.5(FBN1):c.1677_1678insAT (p.Gly560fs) rs2505606028
NM_000169.3(GLA):c.116C>G (p.Thr39Arg) rs201819574
NM_000238.4(KCNH2):c.3257_3258insG (p.Gly1087fs) rs1452575772
NM_000256.3(MYBPC3):c.3747_3748insGG (p.Ile1250fs) rs2495736235
NM_000257.4(MYH7):c.1888C>A (p.Pro630Thr) rs397516124
NM_000337.6(SGCD):c.647A>T (p.Asn216Ile)
NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter) rs2077362782
NM_000527.5(LDLR):c.1255dup (p.Tyr419fs) rs2077408827
NM_000527.5(LDLR):c.2312-2A>G rs2077660035
NM_000891.3(KCNJ2):c.598G>A (p.Val200Met) rs2509921216
NM_001042492.3(NF1):c.3277G>A (p.Val1093Met) rs1555614858
NM_001130987.2(DYSF):c.5993T>C (p.Leu1998Pro) rs769954220
NM_001232.4(CASQ2):c.268_269insTA (p.Gly90fs) rs2526031953
NM_001267550.2(TTN):c.51444del (p.Asp17149fs) rs1362409861
NM_001267550.2(TTN):c.[62674G>A];[68984A>C]
NM_001308093.3(GATA4):c.1312G>A (p.Gly438Arg) rs748737164
NM_001458.5(FLNC):c.3694G>A (p.Gly1232Arg) rs754533053
NM_001927.4(DES):c.977A>G (p.His326Arg) rs2125168243
NM_003060.4(SLC22A5):c.821G>A (p.Trp274Ter) rs2532120947
NM_004415.4(DSP):c.3492_3498del (p.Lys1165fs) rs2533923956
NM_031229.4(RBCK1):c.1108_1109insT (p.His370fs) rs2514545916
NM_058229.4(FBXO32):c.881AGA[1] (p.Lys295del) rs2130498264

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