ClinVar Miner

List of variants reported as likely pathogenic by NEI Ophthalmic Genomics Laboratory,National Institutes of Health

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Total variants: 33
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HGVS dbSNP
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter)
NM_000322.5(PRPH2):c.318del (p.Leu107fs)
NM_000322.5(PRPH2):c.389T>C (p.Leu130Pro)
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln) rs554945964
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter) rs1582780550
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys) rs1064793237
NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg) rs61755796
NM_000322.5(PRPH2):c.537G>T (p.Trp179Cys)
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) rs121918563
NM_000322.5(PRPH2):c.582-1G>A
NM_000322.5(PRPH2):c.583C>T (p.Arg195Ter)
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln) rs121918567
NM_000322.5(PRPH2):c.587T>A (p.Ile196Asn) rs1131691378
NM_000322.5(PRPH2):c.588_589dup (p.Lys197fs)
NM_000322.5(PRPH2):c.597del (p.Asn199fs)
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976
NM_000322.5(PRPH2):c.631T>C (p.Phe211Leu)
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr) rs61755801
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr) rs61755803
NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter)
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.646_649delinsGG (p.Pro216fs)
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter)
NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro)
NM_000322.5(PRPH2):c.675T>A (p.Tyr225Ter)
NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile)
NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser) rs1064793931
NM_000322.5(PRPH2):c.761T>A (p.Leu254Gln)
NM_000322.5(PRPH2):c.828+2T>C
NM_000322.5(PRPH2):c.903_906del (p.Ser301fs)

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