ClinVar Miner

List of variants in gene combination POMGNT1, TSPAN1 studied for Retinitis pigmentosa 76

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Total variants: 5
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NM_017739.3(POMGNT1):c.1505G>C (p.Gly502Ala) rs886037948
NM_017739.3(POMGNT1):c.1895+1G>A rs386834024
NM_017739.3(POMGNT1):c.359T>G (p.Leu120Arg) rs886037949
NM_017739.3(POMGNT1):c.466G>A (p.Glu156Lys) rs886037947
NM_017739.3(POMGNT1):c.860T>G (p.Ile287Ser) rs200863680

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