List of variants in gene POT1 reported as likely benign for not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 52

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015450.3(POT1):c.1793-303A>G	rs929365	0.03464
NM_015450.3(POT1):c.1506-80_1506-79del	rs34589900	0.01547
NM_015450.3(POT1):c.10-316T>A	rs73223571	0.01480
NM_015450.3(POT1):c.1792+50A>G	rs146966778	0.01095
NM_015450.3(POT1):c.703-262A>G	rs73719059	0.00916
NM_015450.3(POT1):c.-412+193T>C	rs189773582	0.00759
NM_015450.3(POT1):c.1370-150A>G	rs141885512	0.00701
NM_015450.3(POT1):c.256-64G>A	rs115093434	0.00590
NM_015450.3(POT1):c.255+218A>G	rs140769533	0.00553
NM_015450.3(POT1):c.-304C>A	rs139838633	0.00547
NM_015450.3(POT1):c.703-233G>A	rs150979715	0.00542
NM_015450.3(POT1):c.949+171dup	rs34904451	0.00541
NM_015450.3(POT1):c.-321A>T	rs118121031	0.00535
NM_015450.3(POT1):c.1595-167A>G	rs35361757	0.00500
NM_015450.3(POT1):c.10-117T>C	rs111260628	0.00441
NM_015450.3(POT1):c.*89A>G	rs184241887	0.00338
NM_015450.3(POT1):c.-39-168T>C	rs191459325	0.00323
NM_015450.3(POT1):c.124+175T>C	rs139075852	0.00319
NM_015450.3(POT1):c.903G>T (p.Gln301His)	rs116916706	0.00304
NM_015450.3(POT1):c.828G>A (p.Arg276=)	rs76496261	0.00106
NM_015450.3(POT1):c.340A>G (p.Ile114Val)	rs146552802	0.00027
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.813C>T (p.Tyr271=)	rs61756407	0.00011
NM_015450.3(POT1):c.1793-25G>A	rs575804706	0.00004
NM_015450.3(POT1):c.1803G>A (p.Pro601=)	rs754981355	0.00004
NM_015450.3(POT1):c.1077A>G (p.Gln359=)	rs539321499	0.00003
NM_015450.3(POT1):c.1797A>G (p.Ala599=)	rs752430203	0.00003
NM_015450.3(POT1):c.525C>T (p.Asp175=)	rs761930094	0.00003
NM_015450.3(POT1):c.972C>T (p.Tyr324=)	rs758749502	0.00003
NM_015450.3(POT1):c.1569G>A (p.Ser523=)	rs773176095	0.00002
NM_015450.3(POT1):c.747A>G (p.Gln249=)	rs35361862	0.00002
NM_015450.3(POT1):c.264A>G (p.Val88=)	rs1453961322	0.00001
NM_015450.3(POT1):c.306A>G (p.Ala102=)	rs1182980873	0.00001
NM_015450.3(POT1):c.916A>G (p.Ile306Val)	rs1415345156	0.00001
NM_015450.3(POT1):c.-153-9del	rs57468586
NM_015450.3(POT1):c.-227+36C>G	rs531956807
NM_015450.3(POT1):c.-40+149dup	rs201066236
NM_015450.3(POT1):c.1007-319G>A	rs141468844
NM_015450.3(POT1):c.1007-8C>T	rs375482256
NM_015450.3(POT1):c.125-277G>A	rs145897106
NM_015450.3(POT1):c.1407G>A (p.Lys469=)	rs1584753348
NM_015450.3(POT1):c.1434T>C (p.Ser478=)	rs1562977862
NM_015450.3(POT1):c.1505+8G>A	rs1364537881
NM_015450.3(POT1):c.1536A>C (p.Ile512=)	rs765347563
NM_015450.3(POT1):c.1611C>G (p.Pro537=)
NM_015450.3(POT1):c.1656A>C (p.Thr552=)	rs2116414814
NM_015450.3(POT1):c.21A>T (p.Thr7=)	rs1584792046
NM_015450.3(POT1):c.547-10C>T	rs1413025095
NM_015450.3(POT1):c.723C>T (p.Ile241=)	rs371599223
NM_015450.3(POT1):c.87G>C (p.Val29=)	rs1481759760
NM_015450.3(POT1):c.950-10C>T	rs932001885

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.