ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 reported as likely benign for Limb-girdle muscular dystrophy-dystroglycanopathy, type C3; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3

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Total variants: 8
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NM_017739.3(POMGNT1):c.1014C>T (p.Asp338=) rs780555791
NM_017739.3(POMGNT1):c.1167T>C (p.Ala389=) rs183698543
NM_017739.3(POMGNT1):c.1284+9G>C rs565797493
NM_017739.3(POMGNT1):c.1305G>A (p.Glu435=) rs1272401946
NM_017739.3(POMGNT1):c.1509C>T (p.Ile503=) rs370215834
NM_017739.3(POMGNT1):c.421-7C>A rs189274856
NM_017739.3(POMGNT1):c.751+10G>A rs200759272
NM_017739.3(POMGNT1):c.751+8T>C rs1553163692

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