List of variants in gene PRPH2 reported as likely pathogenic for age-related macular degeneration

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)	rs139185976	0.00010
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln)	rs554945964	0.00003
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)	rs61755803	0.00001
NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile)	rs369507460	0.00001
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter)	rs1242862941
NM_000322.5(PRPH2):c.318del (p.Leu107fs)	rs1761913048
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.582-1G>A	rs1800118693
NM_000322.5(PRPH2):c.588_589dup (p.Lys197fs)	rs1800118385
NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter)	rs1388865786
NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser)	rs1064793931
NM_000322.5(PRPH2):c.828+2T>C	rs1800108496

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