ClinVar Miner

List of variants reported as uncertain significance for Hyperparathyroidism 1 by Baylor Genetics

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln) rs149875598 0.00014
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile) rs368442389 0.00007
NM_024529.5(CDC73):c.1236G>A (p.Met412Ile) rs757006970 0.00004
NM_024529.5(CDC73):c.1304T>C (p.Met435Thr) rs202209013 0.00003
NM_024529.5(CDC73):c.680G>A (p.Arg227Lys) rs145694828 0.00003
NM_024529.5(CDC73):c.1135G>A (p.Asp379Asn) rs971586985 0.00002
NM_024529.5(CDC73):c.844A>G (p.Thr282Ala) rs201236330 0.00002
NM_024529.5(CDC73):c.1137C>G (p.Asp379Glu) rs774536123 0.00001
NM_024529.5(CDC73):c.1149C>A (p.Asp383Glu) rs587778167 0.00001
NM_024529.5(CDC73):c.1255A>G (p.Ile419Val) rs1198867364 0.00001
NM_024529.5(CDC73):c.1538G>A (p.Arg513Gln) rs1465509067 0.00001
NM_024529.5(CDC73):c.1575T>G (p.His525Gln) rs1378278674 0.00001
NM_024529.5(CDC73):c.754A>G (p.Ile252Val) rs374290883 0.00001
NM_024529.5(CDC73):c.787C>T (p.Arg263Cys) rs878855091 0.00001
NM_024529.5(CDC73):c.803G>A (p.Arg268Gln) rs750706815 0.00001
NM_024529.5(CDC73):c.842G>A (p.Arg281His) rs762716583 0.00001
NM_024529.5(CDC73):c.973-23487G>A rs765816443 0.00001
NM_024529.5(CDC73):c.1003C>T (p.Pro335Ser) rs779180488
NM_024529.5(CDC73):c.1009G>A (p.Ala337Thr)
NM_024529.5(CDC73):c.1018G>A (p.Val340Ile) rs1060500021
NM_024529.5(CDC73):c.1103C>T (p.Thr368Ile) rs2102038553
NM_024529.5(CDC73):c.1192C>A (p.Gln398Lys)
NM_024529.5(CDC73):c.1200A>T (p.Glu400Asp)
NM_024529.5(CDC73):c.1249A>G (p.Thr417Ala) rs1572215351
NM_024529.5(CDC73):c.1384C>T (p.Pro462Ser) rs1199579887
NM_024529.5(CDC73):c.1486G>A (p.Val496Ile)
NM_024529.5(CDC73):c.1537C>T (p.Arg513Trp) rs1060500011
NM_024529.5(CDC73):c.298G>A (p.Gly100Ser)
NM_024529.5(CDC73):c.348A>G (p.Ile116Met)
NM_024529.5(CDC73):c.388G>A (p.Glu130Lys)
NM_024529.5(CDC73):c.412C>A (p.Pro138Thr) rs369542555
NM_024529.5(CDC73):c.424-12G>A
NM_024529.5(CDC73):c.47A>G (p.Lys16Arg)
NM_024529.5(CDC73):c.710T>C (p.Ile237Thr)
NM_024529.5(CDC73):c.731A>G (p.Asn244Ser) rs368199363
NM_024529.5(CDC73):c.748T>C (p.Phe250Leu)
NM_024529.5(CDC73):c.762A>C (p.Gln254His)
NM_024529.5(CDC73):c.818C>T (p.Ala273Val) rs2103130620
NM_024529.5(CDC73):c.847A>G (p.Lys283Glu) rs1572160304

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