ClinVar Miner

List of variants in gene POT1 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_015450.3(POT1):c.1687-5T>A rs35062732 0.00699
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706 0.00304
NM_015450.3(POT1):c.751A>G (p.Met251Val) rs148397357 0.00171
NM_015450.3(POT1):c.828G>A (p.Arg276=) rs76496261 0.00106
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg) rs554325914 0.00098
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg) rs143635917 0.00042
NM_015450.3(POT1):c.846C>T (p.Asn282=) rs142704514 0.00035
NM_015450.3(POT1):c.1228G>C (p.Asp410His) rs79314063 0.00022
NM_015450.3(POT1):c.64A>G (p.Ile22Val) rs375440229 0.00019
NM_015450.3(POT1):c.670G>A (p.Asp224Asn) rs202187871 0.00012
NM_015450.3(POT1):c.1416T>G (p.Ser472Arg) rs146643991 0.00006
NM_015450.3(POT1):c.526G>A (p.Gly176Arg) rs774576173 0.00005
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter) rs756198077 0.00004
NM_015450.3(POT1):c.1442A>G (p.Glu481Gly) rs548024862 0.00004
NM_015450.3(POT1):c.*1507A>G rs537858943 0.00003
NM_015450.3(POT1):c.1256A>G (p.Tyr419Cys) rs770213689 0.00003
NM_015450.3(POT1):c.977T>C (p.Val326Ala) rs75932146 0.00003
NM_015450.3(POT1):c.1164-1G>A rs866612394 0.00002
NM_015450.3(POT1):c.747A>G (p.Gln249=) rs35361862 0.00002
NM_015450.3(POT1):c.1050C>T (p.Ala350=) rs1199499328 0.00001
NM_015450.3(POT1):c.1315G>T (p.Val439Leu) rs547000637 0.00001
NM_015450.3(POT1):c.1369+10T>A rs773549874 0.00001
NM_015450.3(POT1):c.1555G>A (p.Val519Ile) rs776873207 0.00001
NM_015450.3(POT1):c.1566A>G (p.Thr522=) rs746796357 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 0.00001
NM_015450.3(POT1):c.547-3C>A rs770890978 0.00001
NM_015450.3(POT1):c.862C>T (p.Leu288=) rs199583149 0.00001
NM_015450.3(POT1):c.916A>G (p.Ile306Val) rs1415345156 0.00001
NM_015450.3(POT1):c.1081C>T (p.Arg361Cys) rs372317646
NM_015450.3(POT1):c.1139T>A (p.Leu380His) rs2116467460
NM_015450.3(POT1):c.1164-7A>C rs1554420177
NM_015450.3(POT1):c.1176A>C (p.Pro392=) rs2116462173
NM_015450.3(POT1):c.119G>A (p.Gly40Glu) rs2116629512
NM_015450.3(POT1):c.1211G>A (p.Gly404Asp) rs35536751
NM_015450.3(POT1):c.1289A>C (p.Lys430Thr) rs2116461480
NM_015450.3(POT1):c.1338G>T (p.Pro446=) rs185651210
NM_015450.3(POT1):c.1481T>C (p.Ile494Thr) rs774858551
NM_015450.3(POT1):c.1572G>A (p.Trp524Ter) rs1794703569
NM_015450.3(POT1):c.1793-10_1793-8del rs2116403812
NM_015450.3(POT1):c.314C>T (p.Thr105Met) rs1554426994
NM_015450.3(POT1):c.437C>T (p.Pro146Leu) rs1554426915
NM_015450.3(POT1):c.833T>C (p.Leu278Ser) rs2116504491
NM_015450.3(POT1):c.9+1G>C

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