ClinVar Miner

List of variants reported as uncertain significance for aortic aneurysm, familial thoracic 10

Included ClinVar conditions (1):
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_002317.7(LOX):c.132G>C (p.Gln44His) rs934427837 0.00006
NM_002317.7(LOX):c.1190G>A (p.Arg397His) rs749796906 0.00005
NM_002317.7(LOX):c.493G>C (p.Gly165Arg) rs749364042 0.00004
NM_002317.7(LOX):c.1189C>T (p.Arg397Cys) rs768819499 0.00001
NM_002317.7(LOX):c.137T>A (p.Ile46Asn) rs1230077744 0.00001
NM_002317.7(LOX):c.203G>C (p.Arg68Pro) rs994242735 0.00001
NM_002317.7(LOX):c.302C>T (p.Ala101Val) rs765652942 0.00001
NM_002317.7(LOX):c.355C>A (p.Pro119Thr) rs1336143561 0.00001
NM_002317.7(LOX):c.364C>T (p.Arg122Cys) rs566461481 0.00001
NM_002317.7(LOX):c.986C>A (p.Ser329Tyr) rs755859651 0.00001
NM_002317.7(LOX):c.1102G>A (p.Asp368Asn)
NM_002317.7(LOX):c.1232G>A (p.Gly411Asp) rs186028768
NM_002317.7(LOX):c.262C>A (p.Arg88Ser)
NM_002317.7(LOX):c.878+12G>T rs1754587935
NM_002317.7(LOX):c.917T>C (p.Leu306Pro) rs2152589570
NM_002317.7(LOX):c.95C>G (p.Pro32Arg)

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