ClinVar Miner

List of variants in gene POT1 reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 65
Download table as spreadsheet
HGVS dbSNP
NM_015450.3(POT1):c.1007-5T>C rs1584758541
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.1050C>T (p.Ala350=) rs1199499328
NM_015450.3(POT1):c.1077A>G (p.Gln359=) rs539321499
NM_015450.3(POT1):c.1120C>T (p.Leu374=) rs148091643
NM_015450.3(POT1):c.1122A>C (p.Leu374=) rs143283657
NM_015450.3(POT1):c.1178A>G (p.His393Arg) rs746416077
NM_015450.3(POT1):c.1185C>T (p.Gly395=) rs538385307
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.1257T>C (p.Tyr419=) rs1584757255
NM_015450.3(POT1):c.1260T>C (p.Asp420=) rs933280158
NM_015450.3(POT1):c.1290A>G (p.Lys430=) rs1562980850
NM_015450.3(POT1):c.1305A>T (p.Ala435=) rs756111359
NM_015450.3(POT1):c.1315G>T (p.Val439Leu) rs547000637
NM_015450.3(POT1):c.1338G>A (p.Pro446=) rs185651210
NM_015450.3(POT1):c.1338G>T (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.1401G>A (p.Ser467=) rs775385144
NM_015450.3(POT1):c.1490C>A (p.Thr497Lys) rs879897044
NM_015450.3(POT1):c.1531T>C (p.Ser511Pro) rs1584749215
NM_015450.3(POT1):c.1551C>T (p.Ser517=) rs1447234373
NM_015450.3(POT1):c.1578T>G (p.Pro526=) rs1584749147
NM_015450.3(POT1):c.15A>G (p.Pro5=) rs764164330
NM_015450.3(POT1):c.1614C>T (p.Leu538=) rs969018798
NM_015450.3(POT1):c.1653A>G (p.Gly551=) rs745543835
NM_015450.3(POT1):c.1704T>C (p.Ile568=) rs749834304
NM_015450.3(POT1):c.1779A>G (p.Pro593=) rs1584746381
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.1807T>C (p.Leu603=) rs375110259
NM_015450.3(POT1):c.1841A>G (p.Asn614Ser) rs202024401
NM_015450.3(POT1):c.1881C>A (p.Thr627=) rs1584745500
NM_015450.3(POT1):c.231T>C (p.Asp77=) rs1205715970
NM_015450.3(POT1):c.252G>A (p.Leu84=) rs1584777703
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.495T>C (p.Thr165=) rs773138295
NM_015450.3(POT1):c.516A>G (p.Ala172=) rs767849387
NM_015450.3(POT1):c.525C>T (p.Asp175=) rs761930094
NM_015450.3(POT1):c.570A>G (p.Pro190=) rs1584769931
NM_015450.3(POT1):c.579T>G (p.Ser193=) rs1308025357
NM_015450.3(POT1):c.588C>T (p.Val196=) rs1584769909
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.684T>C (p.His228=) rs778643955
NM_015450.3(POT1):c.702+5T>C rs1370505940
NM_015450.3(POT1):c.720A>G (p.Arg240=) rs766211616
NM_015450.3(POT1):c.747A>G (p.Gln249=) rs35361862
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.7T>C (p.Leu3=) rs1584510203
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.862C>T (p.Leu288=) rs199583149
NM_015450.3(POT1):c.87G>A (p.Val29=) rs1481759760
NM_015450.3(POT1):c.87G>C (p.Val29=) rs1481759760
NM_015450.3(POT1):c.9+3A>G rs372320290
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706
NM_015450.3(POT1):c.936C>T (p.Asp312=) rs35051558
NM_015450.3(POT1):c.939C>T (p.Asp313=) rs746756338
NM_015450.3(POT1):c.972C>T (p.Tyr324=) rs758749502
NM_015450.3(POT1):c.994C>T (p.Leu332=) rs138223484

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.