ClinVar Miner

List of variants in gene POT1 reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 33
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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.1164-1G>A rs866612394 0.00002
NM_015450.3(POT1):c.1021C>T (p.Gln341Ter)
NM_015450.3(POT1):c.1065_1067delinsGG (p.Ala356fs)
NM_015450.3(POT1):c.1065dup (p.Ala356fs) rs1225878757
NM_015450.3(POT1):c.1107del (p.Ser368_Tyr369insTer)
NM_015450.3(POT1):c.1113del (p.Arg372fs)
NM_015450.3(POT1):c.1135A>T (p.Lys379Ter)
NM_015450.3(POT1):c.1251del (p.Leu418fs)
NM_015450.3(POT1):c.1285C>T (p.Gln429Ter)
NM_015450.3(POT1):c.1300del (p.Lys433_Val434insTer) rs1795015022
NM_015450.3(POT1):c.1305del (p.Val436fs) rs1584757180
NM_015450.3(POT1):c.1322dup (p.Asn441fs) rs1358966427
NM_015450.3(POT1):c.147del (p.Ile49fs) rs1064794328
NM_015450.3(POT1):c.1568C>A (p.Ser523Ter)
NM_015450.3(POT1):c.1579del (p.Ser527fs)
NM_015450.3(POT1):c.1615C>T (p.Gln539Ter) rs2116415082
NM_015450.3(POT1):c.1672dup (p.Tyr558fs) rs2116414744
NM_015450.3(POT1):c.1682del (p.Asp561fs)
NM_015450.3(POT1):c.177C>A (p.Cys59Ter)
NM_015450.3(POT1):c.181_182delinsGAAACTATGAAGTTTCTTTAGTTTAAA (p.Leu61delinsGluThrMetLysPheLeuTer) rs1584777802
NM_015450.3(POT1):c.254dup (p.Ile86fs)
NM_015450.3(POT1):c.279_280del (p.Gln94fs) rs2116542675
NM_015450.3(POT1):c.318del (p.Phe106fs)
NM_015450.3(POT1):c.483T>G (p.Tyr161Ter)
NM_015450.3(POT1):c.499C>T (p.Gln167Ter)
NM_015450.3(POT1):c.552G>A (p.Trp184Ter) rs1202302799
NM_015450.3(POT1):c.631dup (p.His211fs) rs2116525878
NM_015450.3(POT1):c.691del (p.Arg231fs)
NM_015450.3(POT1):c.848_849del (p.Asn282_Ser283insTer)
NM_015450.3(POT1):c.887del (p.Asn296fs)
NM_015450.3(POT1):c.954_955dup (p.Gly319fs)

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