ClinVar Miner

List of variants reported as likely pathogenic for Tumor predisposition syndrome 3

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter) rs756198077 0.00004
NM_015450.3(POT1):c.1071dup (p.Gln358fs) rs750470470 0.00003
NM_015450.3(POT1):c.1506-1G>A rs1418539002 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 0.00001
NM_015450.3(POT1):c.268A>G (p.Lys90Glu) rs1554427012 0.00001
NC_000007.13:g.(?_124475323)_(124475478_?)dup
NM_015450.3(POT1):c.1003_1006+10del
NM_015450.3(POT1):c.1006+1G>T
NM_015450.3(POT1):c.1006+2T>C rs1795183662
NM_015450.3(POT1):c.1007-2_1009del rs754005964
NM_015450.3(POT1):c.1163+1G>A rs1562981766
NM_015450.3(POT1):c.1163+1G>C rs1562981766
NM_015450.3(POT1):c.124+1G>C rs1563008413
NM_015450.3(POT1):c.124+2T>C rs2116629474
NM_015450.3(POT1):c.125-1G>T rs1795856406
NM_015450.3(POT1):c.125-2A>G rs1562997292
NM_015450.3(POT1):c.126T>A (p.Asp42Glu)
NM_015450.3(POT1):c.1322dup (p.Asn441fs) rs1358966427
NM_015450.3(POT1):c.1369+1_1369+5del rs750755822
NM_015450.3(POT1):c.1369+1_1369+7del
NM_015450.3(POT1):c.1505+2T>C
NM_015450.3(POT1):c.1594+1G>A rs1794702760
NM_015450.3(POT1):c.1594+1G>C
NM_015450.3(POT1):c.1594+2T>C
NM_015450.3(POT1):c.1595-1G>A
NM_015450.3(POT1):c.1595-2A>G rs2116415268
NM_015450.3(POT1):c.1595-2A>T
NM_015450.3(POT1):c.1687-1G>A rs587777473
NM_015450.3(POT1):c.1792+1G>T rs1562972354
NM_015450.3(POT1):c.265_273delinsAATCTT (p.Tyr89_Lys91delinsAsnLeu)
NM_015450.3(POT1):c.349C>T (p.Arg117Cys) rs780936436
NM_015450.3(POT1):c.546+1G>A rs1795645080
NM_015450.3(POT1):c.546+2T>G
NM_015450.3(POT1):c.702+1G>A rs2116525031
NM_015450.3(POT1):c.703-1G>A rs2116505401
NM_015450.3(POT1):c.703-2A>C rs1795356111
NM_015450.3(POT1):c.703-2A>T
NM_015450.3(POT1):c.739A>T (p.Lys247Ter)
NM_015450.3(POT1):c.818G>A (p.Arg273Gln) rs587777476
NM_015450.3(POT1):c.869+1G>T
NM_015450.3(POT1):c.870-1G>A
NM_015450.3(POT1):c.9+1G>A
NM_015450.3(POT1):c.949+1G>C
NM_015450.3(POT1):c.949+1G>T
NM_015450.3(POT1):c.949+2T>G rs2116500720

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