ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP
NM_017739.3(POMGNT1):c.1257G>A (p.Leu419=) rs41292143
NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254
NM_017739.3(POMGNT1):c.1510G>A (p.Val504Ile) rs17102066
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017739.3(POMGNT1):c.1867G>A (p.Val623Met) rs6659553

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