ClinVar Miner

List of variants reported as pathogenic for Retinitis pigmentosa 76 by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser) rs200863680 0.00002
NM_017739.4(POMGNT1):c.187C>T (p.Arg63Ter) rs193919337 0.00001
NM_017739.4(POMGNT1):c.1505G>C (p.Gly502Ala) rs886037948
NM_017739.4(POMGNT1):c.1895+1G>A rs386834024
NM_017739.4(POMGNT1):c.359T>G (p.Leu120Arg) rs886037949
NM_017739.4(POMGNT1):c.466G>A (p.Glu156Lys) rs886037947

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