ClinVar Miner

List of variants in gene PRKG1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_006258.4(PRKG1):c.479-9C>T rs45615337 0.08494
NM_006258.4(PRKG1):c.845A>G (p.Asn282Ser) rs34997494 0.03846
NM_006258.4(PRKG1):c.888T>C (p.Leu296=) rs113994747 0.02057
NM_006258.4(PRKG1):c.408G>A (p.Pro136=) rs55806342 0.01754
NM_006258.4(PRKG1):c.1080T>C (p.Tyr360=) rs141218982 0.00519
NM_006258.4(PRKG1):c.426C>T (p.Asp142=) rs55754654 0.00439
NM_006258.4(PRKG1):c.906A>C (p.Gly302=) rs145917628 0.00185
NM_006258.4(PRKG1):c.1299C>T (p.Ser433=) rs145035655 0.00127
NM_006258.4(PRKG1):c.1525C>T (p.His509Tyr) rs139646798 0.00109
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=) rs75650199 0.00097
NM_001098512.3(PRKG1):c.39G>A (p.Met13Ile) rs202017913 0.00060
NM_006258.4(PRKG1):c.1963-16T>G rs376174664 0.00052
NM_001098512.3(PRKG1):c.13G>C (p.Glu5Gln) rs200844105 0.00024
NM_006258.4(PRKG1):c.2049T>C (p.Asp683=) rs771700923 0.00004
NM_006258.4(PRKG1):c.841-9T>C rs553608826 0.00002
NM_006258.4(PRKG1):c.259G>A (p.Asp87Asn) rs1282024063 0.00001
NM_006258.4(PRKG1):c.1528C>G (p.Arg510Gly) rs1564544146
NM_006258.4(PRKG1):c.1674A>C (p.Ser558=) rs1564544689
NM_006258.4(PRKG1):c.546G>A (p.Gly182=) rs73336216

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