ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys) rs143250889 0.00012
NM_000049.4(ASPA):c.359C>T (p.Ser120Phe) rs2073633178
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter) rs1884501856
NM_001034116.2(EIF2B4):c.866G>A (p.Ser289Asn) rs1681946262
NM_001042631.3(SDHAF1):c.29A>C (p.Gln10Pro) rs1599670818
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_015166.4(MLC1):c.819C>G (p.Phe273Leu) rs2061767679
NM_017882.3(CLN6):c.659A>C (p.Tyr220Ser) rs2093198812
NM_024884.3(L2HGDH):c.1213A>G (p.Arg405Gly) rs1888059303

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