ClinVar Miner

List of variants in gene POMGNT1 reported as likely benign for congenital muscular dystrophy

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.-11G>A rs80107141 0.00484
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His) rs139701867 0.00021
NM_017739.4(POMGNT1):c.7G>T (p.Asp3Tyr) rs201637813 0.00013
NM_017739.4(POMGNT1):c.266G>A (p.Arg89Gln) rs200042607 0.00007
NM_017739.4(POMGNT1):c.38T>C (p.Phe13Ser) rs377724143 0.00006
NM_017739.4(POMGNT1):c.129C>T (p.Ala43=) rs138950267 0.00005
NM_017739.4(POMGNT1):c.99G>T (p.Arg33=) rs767852518 0.00004
NM_017739.4(POMGNT1):c.319C>A (p.Arg107Ser) rs375420073 0.00003
NM_017739.4(POMGNT1):c.121-7C>T rs376662637 0.00002
NM_017739.4(POMGNT1):c.300C>T (p.Asp100=) rs748654101 0.00002
NM_017739.4(POMGNT1):c.105G>A (p.Leu35=) rs1411611657 0.00001
NM_017739.4(POMGNT1):c.120+10T>A rs1658352895 0.00001
NM_017739.4(POMGNT1):c.121-10C>T rs748734868 0.00001
NM_017739.4(POMGNT1):c.126G>A (p.Gly42=) rs374480891 0.00001
NM_017739.4(POMGNT1):c.168G>A (p.Lys56=) rs539988776 0.00001
NM_017739.4(POMGNT1):c.192C>T (p.Ala64=) rs373686838 0.00001
NM_017739.4(POMGNT1):c.213C>T (p.Asp71=) rs909246508 0.00001
NM_017739.4(POMGNT1):c.255G>A (p.Leu85=) rs754111936 0.00001
NM_017739.4(POMGNT1):c.264A>G (p.Pro88=) rs1557677974 0.00001
NM_017739.4(POMGNT1):c.87G>A (p.Leu29=) rs794727291 0.00001
NM_017739.4(POMGNT1):c.102C>T (p.Ala34=) rs2148222428
NM_017739.4(POMGNT1):c.108G>A (p.Arg36=)
NM_017739.4(POMGNT1):c.114C>T (p.Phe38=) rs574593030
NM_017739.4(POMGNT1):c.120+10T>C rs1658352895
NM_017739.4(POMGNT1):c.120+16A>G
NM_017739.4(POMGNT1):c.120+19C>T
NM_017739.4(POMGNT1):c.120+8G>A
NM_017739.4(POMGNT1):c.121-10C>G
NM_017739.4(POMGNT1):c.121-11C>T
NM_017739.4(POMGNT1):c.121-12C>A rs754484485
NM_017739.4(POMGNT1):c.121-13C>A
NM_017739.4(POMGNT1):c.121-13C>T
NM_017739.4(POMGNT1):c.121-15T>C
NM_017739.4(POMGNT1):c.121-17C>A
NM_017739.4(POMGNT1):c.121-6C>A rs558052679
NM_017739.4(POMGNT1):c.121-6C>T rs558052679
NM_017739.4(POMGNT1):c.129C>G (p.Ala43=)
NM_017739.4(POMGNT1):c.132G>A (p.Val44=) rs1658306175
NM_017739.4(POMGNT1):c.141G>T (p.Leu47=) rs2148219389
NM_017739.4(POMGNT1):c.150T>G (p.Thr50=) rs2148219359
NM_017739.4(POMGNT1):c.156T>C (p.Ile52=) rs2148219292
NM_017739.4(POMGNT1):c.159C>T (p.Val53=)
NM_017739.4(POMGNT1):c.165C>T (p.Ile55=)
NM_017739.4(POMGNT1):c.174C>T (p.Ile58=) rs1262461613
NM_017739.4(POMGNT1):c.175C>T (p.Leu59=)
NM_017739.4(POMGNT1):c.180C>T (p.Asp60=) rs2148219090
NM_017739.4(POMGNT1):c.183T>C (p.Thr61=) rs748826601
NM_017739.4(POMGNT1):c.18C>T (p.Pro6=) rs1411103437
NM_017739.4(POMGNT1):c.198T>C (p.Ser66=) rs2148218905
NM_017739.4(POMGNT1):c.201A>G (p.Glu67=)
NM_017739.4(POMGNT1):c.225G>A (p.Glu75=) rs2148218728
NM_017739.4(POMGNT1):c.235+11G>A rs2148218572
NM_017739.4(POMGNT1):c.235+18A>T
NM_017739.4(POMGNT1):c.235+20G>A rs2148218480
NM_017739.4(POMGNT1):c.236-15T>C
NM_017739.4(POMGNT1):c.236-15_236-7del rs769193448
NM_017739.4(POMGNT1):c.236-16C>T
NM_017739.4(POMGNT1):c.236-17C>A
NM_017739.4(POMGNT1):c.236-17C>T
NM_017739.4(POMGNT1):c.236-19G>A
NM_017739.4(POMGNT1):c.236-5C>A
NM_017739.4(POMGNT1):c.236-6C>T rs2148217861
NM_017739.4(POMGNT1):c.236-8C>T
NM_017739.4(POMGNT1):c.243C>G (p.Ala81=) rs200570654
NM_017739.4(POMGNT1):c.252C>T (p.Arg84=)
NM_017739.4(POMGNT1):c.258G>A (p.Glu86=) rs2148217653
NM_017739.4(POMGNT1):c.261C>G (p.Pro87=)
NM_017739.4(POMGNT1):c.261C>T (p.Pro87=) rs1658279896
NM_017739.4(POMGNT1):c.270C>A (p.Arg90=)
NM_017739.4(POMGNT1):c.285C>T (p.Pro95=) rs2148217334
NM_017739.4(POMGNT1):c.289C>A (p.Arg97=) rs564076183
NM_017739.4(POMGNT1):c.309G>A (p.Val103=) rs1553164091
NM_017739.4(POMGNT1):c.324C>T (p.Ser108=)
NM_017739.4(POMGNT1):c.333T>C (p.Tyr111=)
NM_017739.4(POMGNT1):c.33G>A (p.Lys11=)
NM_017739.4(POMGNT1):c.354+14G>T
NM_017739.4(POMGNT1):c.354+15G>A
NM_017739.4(POMGNT1):c.354+15G>C
NM_017739.4(POMGNT1):c.354+15G>T
NM_017739.4(POMGNT1):c.354+8G>A
NM_017739.4(POMGNT1):c.36C>T (p.Pro12=)
NM_017739.4(POMGNT1):c.39T>C (p.Phe13=) rs2148222786
NM_017739.4(POMGNT1):c.45T>C (p.Ala15=) rs2148222755
NM_017739.4(POMGNT1):c.54G>A (p.Lys18=) rs1364921620
NM_017739.4(POMGNT1):c.55C>A (p.Arg19=) rs757941122
NM_017739.4(POMGNT1):c.6C>T (p.Asp2=) rs375238770
NM_017739.4(POMGNT1):c.72C>T (p.Thr24=)
NM_017739.4(POMGNT1):c.81T>C (p.Tyr27=)
NM_017739.4(POMGNT1):c.96G>A (p.Gln32=)
NM_017739.4(POMGNT1):c.99G>A (p.Arg33=)

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.