ClinVar Miner

List of variants in gene POT1 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 26
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HGVS dbSNP
NM_015450.3(POT1):c.1030G>A (p.Glu344Lys) rs951589289
NM_015450.3(POT1):c.1097T>C (p.Leu366Ser) rs1554420620
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg) rs143635917
NM_015450.3(POT1):c.1186G>A (p.Asp396Asn) rs148956533
NM_015450.3(POT1):c.1363A>G (p.Ile455Val) rs776965979
NM_015450.3(POT1):c.1441G>A (p.Glu481Lys) rs200494750
NM_015450.3(POT1):c.1532C>T (p.Ser511Phe) rs1554416456
NM_015450.3(POT1):c.1559A>G (p.Asp520Gly) rs1370868219
NM_015450.3(POT1):c.1594G>C (p.Ala532Pro) rs537377921
NM_015450.3(POT1):c.1606G>A (p.Val536Ile) rs1174783791
NM_015450.3(POT1):c.1630A>G (p.Met544Val) rs762424988
NM_015450.3(POT1):c.1742A>G (p.Lys581Arg) rs201023336
NM_015450.3(POT1):c.1814G>C (p.Cys605Ser) rs766020213
NM_015450.3(POT1):c.211A>G (p.Ile71Val) rs776844142
NM_015450.3(POT1):c.255G>A (p.Lys85=) rs747851551
NM_015450.3(POT1):c.388C>T (p.His130Tyr) rs1554426951
NM_015450.3(POT1):c.43A>C (p.Asn15His) rs1554434768
NM_015450.3(POT1):c.475A>G (p.Met159Val) rs1449504013
NM_015450.3(POT1):c.526G>A (p.Gly176Arg) rs774576173
NM_015450.3(POT1):c.670G>A (p.Asp224Asn) rs202187871
NM_015450.3(POT1):c.703G>A (p.Val235Ile) rs753638532
NM_015450.3(POT1):c.841A>G (p.Ser281Gly) rs780098976
NM_015450.3(POT1):c.870-3T>C rs1291756890
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706
NM_015450.3(POT1):c.949A>C (p.Ser317Arg) rs1554423487
NM_015450.3(POT1):c.973G>A (p.Glu325Lys) rs1554421987

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