ClinVar Miner

List of variants in gene POMGNT1 reported as likely benign for Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
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=)

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