ClinVar Miner

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

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.968G>A (p.Trp323Ter)
NM_000238.4(KCNH2):c.1425C>A (p.Tyr475Ter) rs760584131
NM_000371.4(TTR):c.214T>C (p.Ser72Pro) rs2144409444
NM_000475.5(NR0B1):c.215_218dup (p.His73fs) rs1926599738
NM_000527.5(LDLR):c.1014C>G (p.Cys338Trp) rs879254755
NM_000527.5(LDLR):c.1285G>T (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.1436T>A (p.Leu479Gln) rs879254900
NM_000527.5(LDLR):c.1778del (p.Gly593fs) rs875989931
NM_000527.5(LDLR):c.181G>T (p.Glu61Ter) rs2077195468
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.5(LDLR):c.514G>C (p.Asp172His) rs879254554
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr) rs879254611
NM_000527.5(LDLR):c.680A>G (p.Asp227Gly)
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.906C>G (p.Cys302Trp) rs879254716
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_002055.5(GFAP):c.217A>G (p.Met73Val) rs2145642617
NM_005120.3(MED12):c.1249G>A (p.Val417Ile) rs2147783166
NM_006663.4(PPP1R13L):c.580C>T (p.Gln194Ter) rs2123386598
NM_006996.3(SLC19A2):c.697C>T (p.Gln233Ter) rs1658342879
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_182925.5(FLT4):c.244C>T (p.Arg82Ter) rs2127839096

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