ClinVar Miner

List of variants in gene POT1 reported by Sema4, Sema4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.340A>G (p.Ile114Val) rs146552802 0.00027
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.1023G>A (p.Gln341=) rs147003926 0.00016
NM_015450.3(POT1):c.670G>A (p.Asp224Asn) rs202187871 0.00012
NM_015450.3(POT1):c.1686+32A>G rs749702835 0.00011
NM_015450.3(POT1):c.813C>T (p.Tyr271=) rs61756407 0.00011
NM_015450.3(POT1):c.771A>T (p.Thr257=) rs762679439 0.00010
NM_015450.3(POT1):c.438G>A (p.Pro146=) rs373691389 0.00004
NM_015450.3(POT1):c.-153-5T>C rs1382510418 0.00003
NM_015450.3(POT1):c.1071dup (p.Gln358fs) rs750470470 0.00003
NM_015450.3(POT1):c.1797A>G (p.Ala599=) rs752430203 0.00003
NM_015450.3(POT1):c.972C>T (p.Tyr324=) rs758749502 0.00003
NM_015450.3(POT1):c.1284T>C (p.Asn428=) rs141341950 0.00002
NM_015450.3(POT1):c.141A>G (p.Val47=) rs1056627672 0.00002
NM_015450.3(POT1):c.1807T>C (p.Leu603=) rs375110259 0.00002
NM_015450.3(POT1):c.747A>G (p.Gln249=) rs35361862 0.00002
NM_015450.3(POT1):c.1067C>T (p.Ala356Val) rs1342019926 0.00001
NM_015450.3(POT1):c.1106A>G (p.Tyr369Cys) rs763905854 0.00001
NM_015450.3(POT1):c.870-3T>C rs1291756890 0.00001
NM_015450.3(POT1):c.899A>G (p.Asn300Ser) rs573222502 0.00001
NM_015450.3(POT1):c.991C>T (p.Gln331Ter) rs531061783 0.00001
NM_015450.3(POT1):c.-153-9del rs57468586
NM_015450.3(POT1):c.-153-9dup rs57468586
NM_015450.3(POT1):c.-226-11dup rs955934675
NM_015450.3(POT1):c.1069C>G (p.Pro357Ala) rs748578303
NM_015450.3(POT1):c.1081C>T (p.Arg361Cys) rs372317646
NM_015450.3(POT1):c.1122A>G (p.Leu374=) rs143283657
NM_015450.3(POT1):c.1356A>G (p.Leu452=) rs2116461050
NM_015450.3(POT1):c.1506-10T>C rs2116422359
NM_015450.3(POT1):c.1711T>G (p.Ser571Ala) rs1794604371
NM_015450.3(POT1):c.1781_1782del (p.Gly594fs) rs1562972380
NM_015450.3(POT1):c.1793-10_1793-8del rs2116403812
NM_015450.3(POT1):c.1805G>T (p.Trp602Leu) rs996577534
NM_015450.3(POT1):c.1831A>G (p.Asn611Asp) rs1794570957
NM_015450.3(POT1):c.1881C>A (p.Thr627=) rs1584745500
NM_015450.3(POT1):c.381T>C (p.Thr127=) rs2116542100
NM_015450.3(POT1):c.469C>T (p.Gln157Ter) rs2116541623
NM_015450.3(POT1):c.809G>A (p.Ser270Asn) rs587777477

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.