ClinVar Miner

List of variants reported as likely pathogenic by Hardcastle Lab,UCL Institute of Ophthalmology

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Total variants: 7
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HGVS dbSNP
NM_002764.3(PRPS1):c.47C>T (p.Ser16Phe) rs1556297584
NM_002764.3(PRPS1):c.586C>T (p.Arg196Trp) rs1556300610
NM_002764.3(PRPS1):c.640C>T (p.Arg214Trp) rs1556300621
NM_002764.3(PRPS1):c.641G>C (p.Arg214Pro) rs867288458
NM_024915.3(GRHL2):c.20+257delT rs1554579832
NM_024915.4(GRHL2):c.20+133del rs1554579819
NM_024915.4(GRHL2):c.20+544G>T rs1554579878

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