ClinVar Miner

List of variants reported as benign for aortic aneurysm, familial thoracic 8 by Invitae

Included ClinVar conditions (1):
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_006258.4(PRKG1):c.312-35146C>T rs2879523 0.45456
NM_006258.4(PRKG1):c.763-44591A>G rs7083409 0.44235
NM_006258.4(PRKG1):c.479-9C>T rs45615337 0.08494
NM_006258.4(PRKG1):c.1008T>C (p.Phe336=) rs56047641 0.05131
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_006258.4(PRKG1):c.312-12C>G rs371409852 0.00086
NM_006258.4(PRKG1):c.1002-12T>C rs571503787 0.00053
NM_006258.4(PRKG1):c.1963-16T>G rs376174664 0.00052
NM_006258.4(PRKG1):c.675C>T (p.Thr225=) rs142166726 0.00050
NM_006258.4(PRKG1):c.1002-10C>T rs374171830 0.00031
NM_006258.4(PRKG1):c.840+14G>T rs146372571 0.00025
NM_006258.4(PRKG1):c.1002-9G>A rs200218082 0.00022
NM_006258.4(PRKG1):c.1290G>A (p.Gly430=) rs139494883 0.00021
NM_006258.4(PRKG1):c.1017G>A (p.Leu339=) rs187636159 0.00012
NM_006258.4(PRKG1):c.1026G>A (p.Gly342=) rs374834674 0.00011
NM_006258.4(PRKG1):c.321T>C (p.Asp107=) rs201033058 0.00011
NM_006258.4(PRKG1):c.1076+15del rs780846305
NM_006258.4(PRKG1):c.1076+19_1076+20insTGGCCTT rs146504019
NM_006258.4(PRKG1):c.1896-11del rs756748643
NM_006258.4(PRKG1):c.1963-5dup rs1377958548
NM_006258.4(PRKG1):c.522C>T (p.Thr174=) rs369697050
NM_006258.4(PRKG1):c.546G>A (p.Gly182=) rs73336216
NM_006258.4(PRKG1):c.763-15G>T rs1904010

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