ClinVar Miner

List of variants reported as uncertain significance for Familial isolated pituitary adenoma by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.382C>T (p.Arg128Cys) rs140530307 0.00054
NM_004304.5(ALK):c.1283-5T>C rs377214413 0.00012
NM_004304.5(ALK):c.1550A>G (p.His517Arg) rs367674546 0.00008
NM_004304.5(ALK):c.3115G>A (p.Val1039Met) rs200080181 0.00007
NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser) rs375889530 0.00007
NM_003977.4(AIP):c.967C>T (p.Arg323Trp) rs188965257 0.00006
NM_004304.5(ALK):c.2633-3C>T rs200341945 0.00006
NM_004304.5(ALK):c.2194G>A (p.Asp732Asn) rs768366852 0.00003
NM_004304.5(ALK):c.1582G>A (p.Ala528Thr) rs758494304 0.00002
NM_004304.5(ALK):c.1193A>G (p.Asn398Ser) rs754512910 0.00001
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn) rs864309584 0.00001
NM_003977.4(AIP):c.662C>T (p.Pro221Leu) rs1426023503
NM_003977.4(AIP):c.787+10G>A rs776322323
NM_003977.4(AIP):c.949G>T (p.Asp317Tyr) rs145025838
NM_004304.5(ALK):c.1517T>C (p.Leu506Pro) rs762569153
NM_004304.5(ALK):c.164C>A (p.Ala55Glu) rs1217013970

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