ClinVar Miner

List of variants studied for Retinitis pigmentosa 33 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014014.5(SNRNP200):c.1792C>T (p.Arg598Cys) rs367922991 0.00010
NM_014014.5(SNRNP200):c.2951T>C (p.Leu984Pro) rs1231692709 0.00001
NM_014014.5(SNRNP200):c.3341T>C (p.Leu1114Pro)

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