ClinVar Miner

List of variants in gene POT1 reported as likely benign

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Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP
NC_000007.14:g.124898104dup
NM_015450.2(POT1):c.-39-15_-39-12delCTTT rs199955944
NM_015450.2(POT1):c.1006+9_1006+10delAT rs764472102
NM_015450.2(POT1):c.1595-11dup rs762511146
NM_015450.3(POT1):c.-304C>A
NM_015450.3(POT1):c.1006+9A>G rs757922302
NM_015450.3(POT1):c.1007-8C>T rs375482256
NM_015450.3(POT1):c.1014A>T (p.Thr338=) rs1554420707
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg) rs554325914
NM_015450.3(POT1):c.1023G>A (p.Gln341=) rs147003926
NM_015450.3(POT1):c.1035G>A (p.Arg345=) rs1426607411
NM_015450.3(POT1):c.1050C>T (p.Ala350=) rs1199499328
NM_015450.3(POT1):c.1096T>C (p.Leu366=) rs1554420623
NM_015450.3(POT1):c.1104A>G (p.Ser368=) rs1381478448
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg) rs143635917
NM_015450.3(POT1):c.1227A>C (p.Pro409=) rs552835784
NM_015450.3(POT1):c.1228G>C (p.Asp410His) rs79314063
NM_015450.3(POT1):c.1233C>T (p.Val411=) rs376273583
NM_015450.3(POT1):c.124+7A>G rs769945908
NM_015450.3(POT1):c.1251A>G (p.Ser417=) rs1554420121
NM_015450.3(POT1):c.1260T>C (p.Asp420=) rs933280158
NM_015450.3(POT1):c.1283A>G (p.Asn428Ser) rs747149913
NM_015450.3(POT1):c.1284T>C (p.Asn428=) rs141341950
NM_015450.3(POT1):c.1338G>A (p.Pro446=) rs185651210
NM_015450.3(POT1):c.1359T>C (p.Leu453=) rs201869790
NM_015450.3(POT1):c.1360T>C (p.Leu454=) rs1554420018
NM_015450.3(POT1):c.1369+10T>A rs773549874
NM_015450.3(POT1):c.1369+10T>C rs773549874
NM_015450.3(POT1):c.1370-150A>G
NM_015450.3(POT1):c.1401G>A (p.Ser467=) rs775385144
NM_015450.3(POT1):c.1407G>A (p.Lys469=)
NM_015450.3(POT1):c.1551C>T (p.Ser517=) rs1447234373
NM_015450.3(POT1):c.1566A>G (p.Thr522=) rs746796357
NM_015450.3(POT1):c.1569G>A (p.Ser523=) rs773176095
NM_015450.3(POT1):c.1595-5A>G rs1554415905
NM_015450.3(POT1):c.1614C>T (p.Leu538=) rs969018798
NM_015450.3(POT1):c.1662A>C (p.Val554=) rs1554415851
NM_015450.3(POT1):c.1687-5T>A rs35062732
NM_015450.3(POT1):c.1687-9A>G rs776461827
NM_015450.3(POT1):c.1707A>C (p.Pro569=) rs1218962425
NM_015450.3(POT1):c.1746T>C (p.Ser582=) rs1222395233
NM_015450.3(POT1):c.1797A>G (p.Ala599=) rs752430203
NM_015450.3(POT1):c.1803G>A (p.Pro601=) rs754981355
NM_015450.3(POT1):c.183C>T (p.Leu61=) rs1455799309
NM_015450.3(POT1):c.1841A>G (p.Asn614Ser) rs202024401
NM_015450.3(POT1):c.21A>T (p.Thr7=)
NM_015450.3(POT1):c.234T>A (p.Ile78=) rs1554429191
NM_015450.3(POT1):c.240C>T (p.Arg80=) rs1554429181
NM_015450.3(POT1):c.246C>T (p.His82=) rs1554429176
NM_015450.3(POT1):c.255+218A>G
NM_015450.3(POT1):c.256-10A>T rs760102890
NM_015450.3(POT1):c.256-64G>A
NM_015450.3(POT1):c.264A>G (p.Val88=) rs1453961322
NM_015450.3(POT1):c.315G>A (p.Thr105=) rs377547236
NM_015450.3(POT1):c.340A>G (p.Ile114Val) rs146552802
NM_015450.3(POT1):c.447A>G (p.Thr149=) rs1469228736
NM_015450.3(POT1):c.448T>C (p.Leu150=) rs1232926005
NM_015450.3(POT1):c.495T>C (p.Thr165=) rs773138295
NM_015450.3(POT1):c.576A>G (p.Pro192=) rs1450319624
NM_015450.3(POT1):c.618T>C (p.Asp206=) rs1170213047
NM_015450.3(POT1):c.630C>T (p.Ile210=) rs1188736928
NM_015450.3(POT1):c.636G>C (p.Arg212=) rs1554425745
NM_015450.3(POT1):c.639A>G (p.Leu213=) rs1309356160
NM_015450.3(POT1):c.64A>G (p.Ile22Val) rs375440229
NM_015450.3(POT1):c.697C>T (p.Leu233=) rs1554425714
NM_015450.3(POT1):c.703-233G>A
NM_015450.3(POT1):c.747A>G (p.Gln249=) rs35361862
NM_015450.3(POT1):c.750A>C (p.Ser250=) rs1463033972
NM_015450.3(POT1):c.751A>G (p.Met251Val) rs148397357
NM_015450.3(POT1):c.771A>T (p.Thr257=) rs762679439
NM_015450.3(POT1):c.801A>G (p.Gly267=) rs1554423995
NM_015450.3(POT1):c.813C>T (p.Tyr271=) rs61756407
NM_015450.3(POT1):c.828G>A (p.Arg276=) rs76496261
NM_015450.3(POT1):c.846C>T (p.Asn282=) rs142704514
NM_015450.3(POT1):c.879A>G (p.Glu293=) rs759178052
NM_015450.3(POT1):c.87G>A (p.Val29=) rs1481759760
NM_015450.3(POT1):c.9+10T>C rs369023903
NM_015450.3(POT1):c.9+6A>G rs750242979
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706
NM_015450.3(POT1):c.942C>T (p.Ser314=) rs1554423491
NM_015450.3(POT1):c.949+171dup
NM_015450.3(POT1):c.966A>G (p.Ser322=) rs1350554685
NM_015450.3(POT1):c.972C>T (p.Tyr324=) rs758749502
NM_015450.3(POT1):c.994C>T (p.Leu332=) rs138223484
NM_015450.3(POT1):c.996A>G (p.Leu332=) rs1224859801

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