ClinVar Miner

List of variants reported as likely benign for myopathy caused by variation in POMT1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (10):

Autosomal recessive limb-girdle muscular dystrophy type 2K
Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy
Dilated cardiomyopathy 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Muscular dystrophy-dystroglycanopathy type B6; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Myopathy caused by variation in POMT1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_024301.5(FKRP):c.249C>T (p.Ala83=)	rs149030303	0.00897
NM_013382.7(POMT2):c.1183+14A>G	rs80099135	0.00613
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)	rs148206382	0.00359
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys)	rs200990647	0.00109
NM_001079802.2(FKTN):c.910+13C>T	rs375259473	0.00026
NM_024301.5(FKRP):c.828A>G (p.Leu276=)	rs745994685	0.00013
NM_001077365.2(POMT1):c.1699-19A>G	rs761855332	0.00002
NM_001079802.2(FKTN):c.1299G>A (p.Thr433=)	rs912930168	0.00001
NM_001079802.2(FKTN):c.1311G>A (p.Lys437=)	rs904253784	0.00001
NM_001079802.2(FKTN):c.1044+17G>C	rs200801909
NM_024301.5(FKRP):c.168C>T (p.Phe56=)	rs1443120812
NM_024301.5(FKRP):c.558C>A (p.Pro186=)	rs1266858563

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