ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 studied for Limb-Girdle Muscular Dystrophy, Recessive

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Total variants: 14
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NM_001243766.1(POMGNT1):c.2147C>T (p.Ala716Val) rs148903585
NM_017739.3(POMGNT1):c.1007T>C (p.Phe336Ser) rs886046385
NM_017739.3(POMGNT1):c.1285-2A>G rs386834012
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.1540-6C>T rs770449394
NM_017739.3(POMGNT1):c.1895+1G>T rs386834024
NM_017739.3(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074
NM_017739.3(POMGNT1):c.421-7C>A rs189274856
NM_017739.3(POMGNT1):c.486A>G (p.Leu162=) rs138330966
NM_017739.3(POMGNT1):c.681A>G (p.Lys227=) rs2292487
NM_017739.3(POMGNT1):c.813A>C (p.Lys271Asn) rs757156888
NM_017739.3(POMGNT1):c.959G>T (p.Arg320Leu) rs368653589
NM_017739.3(POMGNT1):c.960C>G (p.Arg320=) rs146933218

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